{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T23:48:09Z","timestamp":1792280889732,"version":"4.4.0"},"reference-count":680,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T00:00:00Z","timestamp":1683763200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Twente University &amp; RadBoudumc Opportunities (TURBO) Initiative","award":["2020-21"],"award-info":[{"award-number":["2020-21"]}]},{"name":"Twente University &amp; RadBoudumc Opportunities (TURBO) Initiative","award":["W.OR22-14"],"award-info":[{"award-number":["W.OR22-14"]}]},{"name":"Twente University &amp; RadBoudumc Opportunities (TURBO) Initiative","award":["2019-2766-001"],"award-info":[{"award-number":["2019-2766-001"]}]},{"name":"Prinses Beatrix Spierfonds","award":["2020-21"],"award-info":[{"award-number":["2020-21"]}]},{"name":"Prinses Beatrix Spierfonds","award":["W.OR22-14"],"award-info":[{"award-number":["W.OR22-14"]}]},{"name":"Prinses Beatrix Spierfonds","award":["2019-2766-001"],"award-info":[{"award-number":["2019-2766-001"]}]},{"name":"Stichting Stofwisselkracht","award":["2020-21"],"award-info":[{"award-number":["2020-21"]}]},{"name":"Stichting Stofwisselkracht","award":["W.OR22-14"],"award-info":[{"award-number":["W.OR22-14"]}]},{"name":"Stichting Stofwisselkracht","award":["2019-2766-001"],"award-info":[{"award-number":["2019-2766-001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. The number of genes and monogenic disorders linked to development of cardiac defects is constantly growing and includes inherited metabolic disorders (IMDs). Several IMDs affecting various metabolic pathways have been reported presenting cardiomyopathies and cardiac defects. Considering the pivotal role of sugar metabolism in cardiac tissue, including energy production, nucleic acid synthesis and glycosylation, it is not surprising that an increasing number of IMDs linked to carbohydrate metabolism are described with cardiac manifestations. In this systematic review, we offer a comprehensive overview of IMDs linked to carbohydrate metabolism presenting that present with cardiomyopathies, arrhythmogenic disorders and\/or structural cardiac defects. We identified 58 IMDs presenting with cardiac complications: 3 defects of sugar\/sugar-linked transporters (GLUT3, GLUT10, THTR1); 2 disorders of the pentose phosphate pathway (G6PDH, TALDO); 9 diseases of glycogen metabolism (GAA, GBE1, GDE, GYG1, GYS1, LAMP2, RBCK1, PRKAG2, G6PT1); 29 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2); 15 carbohydrate-linked lysosomal storage diseases (CTSA, GBA1, GLA, GLB1, HEXB, IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, ARSK). With this systematic review we aim to raise awareness about the cardiac presentations in carbohydrate-linked IMDs and draw attention to carbohydrate-linked pathogenic mechanisms that may underlie cardiac complications.<\/jats:p>","DOI":"10.3390\/ijms24108632","type":"journal-article","created":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T02:36:59Z","timestamp":1683859019000},"page":"8632","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1481-7401","authenticated-orcid":false,"given":"Federica","family":"Conte","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"},{"name":"Department of Applied Stem Cell Technologies, TechMed Centre, University of Twente, 7522 NH Enschede, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juda-El","family":"Sam","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk J.","family":"Lefeber","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"},{"name":"Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4312-9296","authenticated-orcid":false,"given":"Robert","family":"Passier","sequence":"additional","affiliation":[{"name":"Department of Applied Stem Cell Technologies, TechMed Centre, University of Twente, 7522 NH Enschede, The Netherlands"},{"name":"Department of Anatomy and Embryology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s13073-017-0410-8","article-title":"Genetics and genomics of dilated cardiomyopathy and systolic heart failure","volume":"9","author":"Tayal","year":"2017","journal-title":"Genome Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1007\/s40273-020-00952-0","article-title":"A Systematic Review of Medical Costs Associated with Heart Failure in the USA (2014\u20132020)","volume":"38","author":"Urbich","year":"2020","journal-title":"PharmacoEconomics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1093\/eurheartj\/ehr260","article-title":"Genetics of inherited cardiomyopathy","volume":"33","author":"Jacoby","year":"2012","journal-title":"Eur. Heart J."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/ehf2.12267","article-title":"Genetic determinants of heart failure: Facts and numbers","volume":"5","author":"Czepluch","year":"2018","journal-title":"ESC Heart Fail."},{"key":"ref_5","first-page":"612","article-title":"Multisociety Consensus Quality Improvement Revised Consensus Statement for Endovascular Therapy of Acute Ischemic Stroke","volume":"13","author":"Sacks","year":"2018","journal-title":"Int. J. Stroke Off. J. Int. Stroke Soc."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/B978-0-444-64029-1.00022-9","article-title":"Inborn errors of metabolism","volume":"162","author":"Ferreira","year":"2019","journal-title":"Handb. Clin. Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/jimd.12348","article-title":"An international classification of inherited metabolic disorders (ICIMD)","volume":"44","author":"Ferreira","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_8","unstructured":"Jeanmonod, R., Asuka, E., and Jeanmonod, D. (2022). Inborn Errors Of Metabolism, StatPearls Publishing LLC. StatPearls Publishing: Copyright \u00a9 2022."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"021102","DOI":"10.7189\/jogh.08.021102","article-title":"Global birth prevalence and mortality from inborn errors of metabolism: A systematic analysis of the evidence","volume":"8","author":"Waters","year":"2018","journal-title":"J. Glob. Health"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Hollak, C.E.M., and Lachmann, R. (2016). Inherited Metabolic Disease in Adults: A Clinical Guide, Oxford University Press.","DOI":"10.1093\/med\/9780199972135.001.0001"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.pcad.2007.11.005","article-title":"Metabolic reserve of the heart: The forgotten link between contraction and coronary flow","volume":"51","author":"Kassiotis","year":"2008","journal-title":"Prog. Cardiovasc. Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"58","DOI":"10.5653\/cerm.2012.39.2.58","article-title":"Function of the pentose phosphate pathway and its key enzyme, transketolase, in the regulation of the meiotic cell cycle in oocytes","volume":"39","author":"Kim","year":"2012","journal-title":"Clin. Exp. Reprod. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"751637","DOI":"10.3389\/fmolb.2021.751637","article-title":"An Overview of Glycosylation and its Impact on Cardiovascular Health and Disease","volume":"8","author":"Zenteno","year":"2021","journal-title":"Front. Mol. Biosci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1007\/s10545-017-0066-y","article-title":"Cardiac complications of congenital disorders of glycosylation (CDG): A systematic review of the literature","volume":"40","author":"Francisco","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_15","first-page":"n71","article-title":"The PRISMA 2020 statement: An updated guideline for reporting systematic reviews","volume":"372","author":"Page","year":"2021","journal-title":"BMJ (Clin. Res. Ed.)"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1146\/annurev-biochem-060614-033904","article-title":"Transport of sugars","volume":"84","author":"Chen","year":"2015","journal-title":"Annu. Rev. Biochem."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/fcp.12516","article-title":"SGLT1 inhibition boon or bane for diabetes-associated cardiomyopathy","volume":"34","author":"Kalra","year":"2020","journal-title":"Fundam. Clin. Pharmacol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1093\/cvr\/cvp190","article-title":"SGLT1 is a novel cardiac glucose transporter that is perturbed in disease states","volume":"84","author":"Banerjee","year":"2009","journal-title":"Cardiovasc. Res."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.jchf.2022.10.004","article-title":"Potential Interactions When Prescribing SGLT2 Inhibitors and Intravenous Iron in Combination in Heart Failure","volume":"11","author":"Packer","year":"2022","journal-title":"JACC Heart Fail."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1016\/j.hfc.2022.03.010","article-title":"SGLT2 Inhibitors and Heart Failure with Preserved Ejection Fraction","volume":"18","author":"Jhund","year":"2022","journal-title":"Heart Fail. Clin."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Saudubray, J.-M., Baumgartner, M.R., and Walter, J. (2016). Inborn Metabolic Diseases: Diagnosis and Treatment, Springer.","DOI":"10.1007\/978-3-662-49771-5"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e24456","DOI":"10.1002\/jcla.24456","article-title":"SLC2A3 variants in familial and sporadic congenital heart diseases in a Chinese Yunnan population","volume":"36","author":"Ma","year":"2022","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S0005-2736(98)00216-8","article-title":"Glucose transporter 3 (GLUT3) protein is present in human myocardium","volume":"1416","author":"Walsh","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1093\/hmg\/ddr555","article-title":"GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGF\u03b2 signaling","volume":"21","author":"Willaert","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/ng1764","article-title":"Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome","volume":"38","author":"Coucke","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1007\/s00431-008-0839-2","article-title":"A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin","volume":"168","author":"Zaidi","year":"2009","journal-title":"Eur. J. Pediatr."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"6769","DOI":"10.1093\/hmg\/ddv382","article-title":"GLUT10 deficiency leads to oxidative stress and non-canonical \u03b1v\u03b23 integrin-mediated TGF\u03b2 signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts","volume":"24","author":"Zoppi","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1002\/ajmg.a.35266","article-title":"Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene","volume":"158","author":"Castori","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_29","first-page":"47","article-title":"Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome","volume":"21","author":"Kocova","year":"2018","journal-title":"Balk. J. Med. Genet. BJMG"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1089\/ars.2019.7843","article-title":"Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?","volume":"34","author":"Boel","year":"2021","journal-title":"Antioxid. Redox Signal."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s00592-008-0042-y","article-title":"Effects of thiamine and benfotiamine on intracellular glucose metabolism and relevance in the prevention of diabetic complications","volume":"45","author":"Beltramo","year":"2008","journal-title":"Acta Diabetol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.cca.2021.01.025","article-title":"Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia","volume":"516","author":"Zhang","year":"2021","journal-title":"Clin. Chim. Acta Int. J. Clin. Chem."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1007\/s12185-010-0681-y","article-title":"Thiamine-responsive megaloblastic anemia syndrome","volume":"92","author":"Bay","year":"2010","journal-title":"Int. J. Hematol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/S0022-3476(78)80503-4","article-title":"Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome?","volume":"93","author":"Viana","year":"1978","journal-title":"J. Pediatr."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1056\/NEJM198409273111307","article-title":"Thiamine-dependent beriberi in the \u201cthiamine-responsive anemia syndrome\u201d","volume":"311","author":"Mandel","year":"1984","journal-title":"N. Engl. J. Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/S0022-3476(85)80011-1","article-title":"Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity","volume":"107","author":"Abboud","year":"1985","journal-title":"J. Pediatr."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/BF00444120","article-title":"Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia","volume":"148","author":"Poggi","year":"1989","journal-title":"Eur. J. Pediatr."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jmg.37.9.669","article-title":"A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I","volume":"37","author":"Scharfe","year":"2000","journal-title":"J. Med. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1046\/j.1365-2141.2001.02774.x","article-title":"A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome","volume":"113","author":"Gritli","year":"2001","journal-title":"Br. J. Haematol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1007\/s00246-002-0215-3","article-title":"Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome","volume":"24","author":"Lorber","year":"2003","journal-title":"Pediatr. Cardiol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/ajmg.a.20506","article-title":"Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome","volume":"125","author":"Lagarde","year":"2004","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_42","first-page":"140","article-title":"Right ventricular dysfunction in thiamine-responsive megaloblastic anaemia syndrome: A case report","volume":"3","author":"Saedi","year":"2011","journal-title":"Heart Asia"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1097\/MPH.0b013e31820030ae","article-title":"Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: A case report","volume":"33","author":"Aycan","year":"2011","journal-title":"J. Pediatr. Hematol.\/Oncol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1989","DOI":"10.1159\/000491467","article-title":"A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia","volume":"47","author":"Xian","year":"2018","journal-title":"Cell. Physiol. Biochem. Int. J. Exp. Cell. Physiol. Biochem. Pharmacol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"348","DOI":"10.24953\/turkjped.2018.03.021","article-title":"Arrhythmia in thiamine responsive megaloblastic anemia syndrome","volume":"60","author":"Argun","year":"2018","journal-title":"Turk. J. Pediatr."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1007\/s00431-013-2237-7","article-title":"Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: A case report","volume":"173","author":"Akbari","year":"2014","journal-title":"Eur. J. Pediatr."},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Li, X., Cheng, Q., Ding, Y., Li, Q., Yao, R., Wang, J., and Wang, X. (2019). TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: A case report. BMC Pediatr., 19.","DOI":"10.1186\/s12887-019-1608-2"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4028\/www.scientific.net\/AMR.995.1","article-title":"Pentose Phosphate Pathway in Disease and Therapy","volume":"995","author":"Rahman","year":"2014","journal-title":"Adv. Mater. Res."},{"key":"ref_49","first-page":"438","article-title":"Nutritional and therapeutic interventions for diabetes and metabolic syndrome","volume":"14","author":"Debasis","year":"2018","journal-title":"Acta Endocrinol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.tibs.2014.06.005","article-title":"The pentose phosphate pathway and cancer","volume":"39","author":"Patra","year":"2014","journal-title":"Trends Biochem. Sci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/s10545-005-5261-6","article-title":"A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency","volume":"28","author":"Verhoeven","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"Fernandes, J., Saudubray, J.-M., van den Berghe, G., and Walter, J.H. (2006). Inborn Metabolic Diseases: Diagnosis and Treatment, Springer.","DOI":"10.1007\/978-3-540-28785-8"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/jimd.12036","article-title":"Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients","volume":"42","author":"Williams","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_54","unstructured":"Rudolph, C.D., Rudolph, A.M., Lister, G.E., First, L.R., and Gershon, A.A. (2011). Rudolph\u2032s Pediatrics, 22e, The McGraw-Hill Companies."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1086\/320108","article-title":"Transaldolase deficiency: Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway","volume":"68","author":"Verhoeven","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1007\/s10545-012-9577-8","article-title":"Transaldolase deficiency: Report of 12 new cases and further delineation of the phenotype","volume":"36","author":"Eyaid","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/8904_2013_243","article-title":"Pulmonary manifestations in a patient with transaldolase deficiency","volume":"12","author":"Jassim","year":"2014","journal-title":"JIMD Rep."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"bcr2017220483","DOI":"10.1136\/bcr-2017-220483","article-title":"Aspirin safety in glucose-6-phosphate dehydrogenase deficiency patients with acute coronary syndrome undergoing percutaneous coronary intervention","volume":"2017","author":"Feghaly","year":"2017","journal-title":"BMJ Case Rep."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Rawat, D.K., Hecker, P., Watanabe, M., Chettimada, S., Levy, R.J., Okada, T., Edwards, J.G., and Gupte, S.A. (2012). Glucose-6-phosphate dehydrogenase and NADPH redox regulates cardiac myocyte L-type calcium channel activity and myocardial contractile function. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0045365"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.2459\/JCM.0b013e32831103c3","article-title":"Drug-eluting stents in a patient with favism: Is the aspirin administration safe?","volume":"9","author":"Rigattieri","year":"2008","journal-title":"J. Cardiovasc. Med."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1177\/0267659110380770","article-title":"Glucose-6-phosphate dehydrogenase deficiency and cardiac surgery","volume":"25","author":"Dogra","year":"2010","journal-title":"Perfusion"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"425","DOI":"10.5551\/jat.6858","article-title":"Glucose-6-phosphate dehydrogenase (G6PDH) deficiency in a patient with ST-segment elevation acute myocardial infarction successfully treated by simple thrombectomy","volume":"18","author":"Porto","year":"2011","journal-title":"J. Atheroscler. Thromb."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"50","DOI":"10.4103\/0971-9784.91483","article-title":"Perioperative challenges in a patient of severe G6PD deficiency undergoing open heart surgery","volume":"15","author":"Chowdhry","year":"2012","journal-title":"Ann. Card. Anaesth."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"bcr2013201432","DOI":"10.1136\/bcr-2013-201432","article-title":"Fatal haemolytic crisis with microvascular pulmonary obstruction mimicking a pulmonary embolism in a young African man with glucose-6-phosphate dehydrogenase deficiency","volume":"2014","author":"Albertsen","year":"2014","journal-title":"BMJ Case Rep."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"bcr2015209365","DOI":"10.1136\/bcr-2015-209365","article-title":"Healing the orphaned heart: Heart failure in a patient with glucose-6-phosphate dehydrogenase deficiency","volume":"2015","author":"Balderia","year":"2015","journal-title":"BMJ Case Rep."},{"key":"ref_66","first-page":"166","article-title":"Drug-induced Hemolysis in G6PD Deficiency: An Unusual Presentation of a Common Clinical Condition","volume":"62","author":"Padakanti","year":"2019","journal-title":"Acta Med."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"604","DOI":"10.5551\/jat.56531","article-title":"The Elderly with Glucose-6-Phosphate Dehydrogenase Deficiency are More Susceptible to Cardiovascular Disease","volume":"28","author":"Dore","year":"2021","journal-title":"J. Atheroscler. Thromb."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1007\/s10545-008-0704-5","article-title":"Glucose-6-phosphate dehydrogenase deficiency protects against coronary heart disease","volume":"31","author":"Meloni","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"H491","DOI":"10.1152\/ajpheart.00721.2012","article-title":"Impact of glucose-6-phosphate dehydrogenase deficiency on the pathophysiology of cardiovascular disease","volume":"304","author":"Hecker","year":"2013","journal-title":"Am. J. Physiology. Heart Circ. Physiol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"e9","DOI":"10.1161\/01.RES.0000083489.83704.76","article-title":"Glucose-6-phosphate dehydrogenase modulates cytosolic redox status and contractile phenotype in adult cardiomyocytes","volume":"93","author":"Jain","year":"2003","journal-title":"Circ. Res."},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Kettenmann, H., and Ransom, B.R. (2012). Neuroglia, Oxford University Press.","DOI":"10.1093\/med\/9780199794591.001.0001"},{"key":"ref_72","first-page":"42","article-title":"Glycogen storage disease type II: Clinical overview","volume":"26","author":"Buzzi","year":"2007","journal-title":"Acta Myol. Myopathies Cardiomyopathies Off. J. Mediterr. Soc. Myol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"177","DOI":"10.3389\/fnagi.2014.00177","article-title":"Pompe disease: From pathophysiology to therapy and back again","volume":"6","author":"Lim","year":"2014","journal-title":"Front. Aging Neurosci."},{"key":"ref_74","first-page":"47","article-title":"Childhood acid maltase deficiency","volume":"41","author":"Matsuishi","year":"1984","journal-title":"A clinical, biochemical, and morphologic study of three patients. Arch. Neurol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.nmd.2020.10.009","article-title":"Cardiovascular disease in non-classic Pompe disease: A systematic review","volume":"31","author":"Roelen","year":"2021","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_76","first-page":"237","article-title":"Variable clinical presentation of glycogen storage disease type IV: From severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities","volume":"14","author":"Truszkowska","year":"2018","journal-title":"Arch. Med. Sci. AMS"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"e230068","DOI":"10.1136\/bcr-2019-230068","article-title":"Glycogen storage disease type IV: Dilated cardiomyopathy as the isolated initial presentation in an adult patient","volume":"12","author":"Maleszewski","year":"2019","journal-title":"BMJ Case Rep."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.spen.2006.06.007","article-title":"Glycogen storage disease: Clinical, biochemical, and molecular heterogeneity","volume":"13","author":"Shin","year":"2006","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_79","first-page":"613","article-title":"Type IV glycogenosis\u2014A study of two cases","volume":"25","author":"Ishihara","year":"1975","journal-title":"Acta Pathol. Jpn."},{"key":"ref_80","first-page":"599","article-title":"Type III glycogenosis with deposition of urate and amyloid","volume":"30","author":"Kawaguchi","year":"1980","journal-title":"Acta Pathol. Jpn."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0022-3476(87)80341-4","article-title":"Severe cardiopathy in branching enzyme deficiency","volume":"111","author":"Servidei","year":"1987","journal-title":"J. Pediatr."},{"key":"ref_82","first-page":"697","article-title":"Type IV glycogen storage disease: First reported case in Thailand","volume":"72","author":"Hemsrichart","year":"1989","journal-title":"J. Med. Assoc. Thail. Chotmaihet Thangphaet"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1007\/BF01954384","article-title":"Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis","volume":"151","author":"Sokal","year":"1992","journal-title":"Eur. J. Pediatr."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1007\/BF00334454","article-title":"Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis)","volume":"85","author":"May","year":"1993","journal-title":"Acta Neuropathol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"685","DOI":"10.3109\/15513819309048254","article-title":"A congenital variant of glycogenosis type IV","volume":"13","author":"Straks","year":"1993","journal-title":"Pediatr. Pathol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1056\/NEJM199303183281101","article-title":"Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher\u2032s disease","volume":"328","author":"Starzl","year":"1993","journal-title":"N. Engl. J. Med."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1097\/00005072-199405000-00004","article-title":"Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage","volume":"53","author":"Herrick","year":"1994","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_88","first-page":"88","article-title":"Hepatocellular adenoma in glycogen storage disease type IV","volume":"118","author":"Alshak","year":"1994","journal-title":"Arch. Pathol. Lab. Med."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1698","DOI":"10.1093\/oxfordjournals.eurheartj.a060797","article-title":"A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy","volume":"16","author":"Nase","year":"1995","journal-title":"Eur. Heart J."},{"key":"ref_90","first-page":"373","article-title":"Failure of liver transplantation to diminish cardiac deposits of amylopectin and leukocyte inclusions in type IV glycogen storage disease","volume":"1","author":"Rosenthal","year":"1995","journal-title":"Liver Transplant. Surg. Off. Publ. Am. Assoc. Study Liver Dis. Int. Liver Transplant. Soc."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1023\/B:BOLI.0000042980.45692.bb","article-title":"Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings","volume":"27","author":"Parini","year":"2004","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1111\/j.1399-3046.2005.00282.x","article-title":"Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence","volume":"9","author":"Das","year":"2005","journal-title":"Pediatr. Transplant."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1177\/0883073807309248","article-title":"A case of congenital glycogen storage disease type IV with a novel GBE1 mutation","volume":"23","author":"Raju","year":"2008","journal-title":"J. Child Neurol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.jelectrocard.2007.09.010","article-title":"Coexistent manifestations of the Andersen-Tawil and Brugada syndromes","volume":"41","author":"Shandling","year":"2008","journal-title":"J. Electrocardiol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"S255","DOI":"10.1007\/s10545-008-0819-8","article-title":"Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity","volume":"31","author":"Eminoglu","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"S161","DOI":"10.1007\/s10545-009-1134-8","article-title":"Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene","volume":"32","author":"Lamperti","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1097\/MPG.0b013e3181d29780","article-title":"Systemic progression of type IV glycogen storage disease after liver transplantation","volume":"51","author":"Willot","year":"2010","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1016\/j.humpath.2011.10.001","article-title":"Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: A case report and review","volume":"43","author":"Magoulas","year":"2012","journal-title":"Hum. Pathol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"764286","DOI":"10.1155\/2012\/764286","article-title":"Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum","volume":"2012","author":"Aksu","year":"2012","journal-title":"Case Rep. Med."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1177\/1093526617707852","article-title":"Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV","volume":"21","author":"Yu","year":"2018","journal-title":"Pediatr. Dev. Pathol. Off. J. Soc. Pediatr. Pathol. Paediatr. Pathol. Soc."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/ehjcr\/ytaa078","article-title":"Case report: Adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging","volume":"4","author":"Lyo","year":"2020","journal-title":"Eur. Heart J. Case Rep."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1007\/s00428-019-02633-6","article-title":"Update on polyglucosan storage diseases","volume":"475","author":"Cenacchi","year":"2019","journal-title":"Virchows Arch. Int. J. Pathol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"R131","DOI":"10.1530\/JOE-18-0120","article-title":"Biochemical and clinical aspects of glycogen storage diseases","volume":"238","author":"Ellingwood","year":"2018","journal-title":"J. Endocrinol."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/jhg.2011.122","article-title":"Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III","volume":"57","author":"Mili","year":"2012","journal-title":"J. Hum. Genet."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1002\/ana.410050504","article-title":"Debrancher deficiency: Neuromuscular disorder in 5 adults","volume":"5","author":"DiMauro","year":"1979","journal-title":"Ann. Neurol."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.1651-2227.1986.tb10201.x","article-title":"Neuromuscular involvement in glycogen storage disease type III","volume":"75","author":"Moses","year":"1986","journal-title":"Acta Paediatr. Scand."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1007\/BF00443106","article-title":"Cardiac involvement in glycogen storage disease type III","volume":"148","author":"Moses","year":"1989","journal-title":"Eur. J. Pediatr."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/BF02238523","article-title":"Cardiomyopathy in glycogen-storage disease type III: Clinical and echographic study of 18 patients","volume":"12","author":"Labrune","year":"1991","journal-title":"Pediatr. Cardiol."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF01744800","article-title":"Cardiomyopathy of glycogen storage disease type III","volume":"8","author":"Carvalho","year":"1993","journal-title":"Heart Vessel."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/0002-8703(95)90097-7","article-title":"Glycogen storage disease type III associated with ventricular tachycardia","volume":"130","author":"Tada","year":"1995","journal-title":"Am. Heart J."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1093\/oxfordjournals.eurheartj.a015283","article-title":"Specific heart muscle disease associated with glycogen storage disease type III: Clinical similarity to the dilated phase of hypertrophic cardiomyopathy","volume":"18","author":"Akazawa","year":"1997","journal-title":"Eur. Heart J."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/S0002-9149(96)00885-5","article-title":"Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III","volume":"79","author":"Lee","year":"1997","journal-title":"Am. J. Cardiol."},{"key":"ref_113","first-page":"117","article-title":"Obstructive hypertrophic cardiomyopathy in type III glycogen-storage disease","volume":"52","author":"Cuspidi","year":"1997","journal-title":"Acta Cardiol."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1111\/j.1440-1746.1998.tb00643.x","article-title":"Case report: Rupture of a gastric varix in liver cirrhosis associated with glycogen storage disease type III","volume":"13","author":"Hashimoto","year":"1998","journal-title":"J. Gastroenterol. Hepatol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.2169\/internalmedicine.37.1055","article-title":"Fatal liver cirrhosis and esophageal variceal hemorrhage in a patient with type IIIa glycogen storage disease","volume":"37","author":"Okuda","year":"1998","journal-title":"Intern. Med."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1023\/A:1012459625902","article-title":"Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId","volume":"24","author":"Sugie","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1253\/jcj.65.462","article-title":"Glycogen storage disease associated with left ventricular aneurysm in an elderly patient","volume":"65","author":"Toda","year":"2001","journal-title":"Jpn. Circ. J."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1046\/j.1460-9592.2002.00942.x","article-title":"Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect","volume":"12","author":"Mohart","year":"2002","journal-title":"Paediatr. Anaesth."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1161\/01.CIR.0000050691.73932.CB","article-title":"Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III","volume":"107","author":"Moon","year":"2003","journal-title":"Circulation"},{"key":"ref_120","first-page":"1653","article-title":"A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene","volume":"71","author":"Ogimoto","year":"2007","journal-title":"Circ. J. Off. J. Jpn. Circ. Soc."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"S103","DOI":"10.1007\/s10545-009-1088-x","article-title":"Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet","volume":"32","author":"Dagli","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_122","first-page":"413","article-title":"Echocardiographic manifestations of Glycogen Storage Disease III: Increase in wall thickness and left ventricular mass over time","volume":"12","author":"Vertilus","year":"2010","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_123","first-page":"E156","article-title":"Premature coronary artery disease in a patient with glycogen storage disease III","volume":"22","author":"LaBarbera","year":"2010","journal-title":"J. Invasive Cardiol."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1515\/jpem.2010.134","article-title":"Glycogen storage disease type III with hypoketosis","volume":"23","author":"Clemente","year":"2010","journal-title":"J. Pediatr. Endocrinol. Metab. JPEM"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1203\/PDR.0b013e318232154f","article-title":"Successful treatment of severe cardiomyopathy in glycogen storage disease type III with D,L-3-hydroxybutyrate, ketogenic and high-protein diet","volume":"70","author":"Valayannopoulos","year":"2011","journal-title":"Pediatr. Res."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/8904_2011_20","article-title":"Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease","volume":"1","author":"Lee","year":"2011","journal-title":"JIMD Rep."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/s10545-011-9384-7","article-title":"Pregnancy and its management in women with GSD type III\u2014A single centre experience","volume":"35","author":"Ramachandran","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/8904_2011_118","article-title":"Cardiac Pathology in Glycogen Storage Disease Type III","volume":"6","author":"Austin","year":"2012","journal-title":"JIMD Rep."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/8904_2012_134","article-title":"Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene","volume":"7","author":"Sentner","year":"2013","journal-title":"JIMD Rep."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.ymgme.2013.02.008","article-title":"Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?","volume":"109","author":"Preisler","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/8904_2014_343","article-title":"Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III","volume":"17","author":"Brambilla","year":"2014","journal-title":"JIMD Rep."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1186\/s13023-014-0196-3","article-title":"Glycogen storage disease type III: Modified Atkins diet improves myopathy","volume":"9","author":"Mayorandan","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"E68","DOI":"10.1503\/cmaj.140840","article-title":"A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: A case series","volume":"187","author":"Okubo","year":"2015","journal-title":"Can. Med. Assoc. J. J. L\u2032Assoc. Med. Can."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"1545","DOI":"10.1007\/s00431-015-2546-0","article-title":"Skeletal and cardiac muscle involvement in children with glycogen storage disease type III","volume":"174","author":"Mogahed","year":"2015","journal-title":"Eur. J. Pediatr."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1007\/s10545-016-9932-2","article-title":"Glycogen storage disease type III: Diagnosis, genotype, management, clinical course and outcome","volume":"39","author":"Sentner","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1515\/jpem-2018-0151","article-title":"A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: An observational study of 50 patients","volume":"31","author":"Mansouri","year":"2018","journal-title":"J. Pediatr. Endocrinol. Metab. JPEM"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1097\/CND.0000000000000212","article-title":"Distinct Clinical and Genetic Findings in Iranian Patients with Glycogen Storage Disease Type 3","volume":"19","author":"Nazari","year":"2018","journal-title":"J. Clin. Neuromuscul. Dis."},{"key":"ref_138","first-page":"17","article-title":"Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III","volume":"38","author":"Tresso","year":"2019","journal-title":"Acta Myol. Myopathies Cardiomyopathies Off. J. Mediterr. Soc. Myol."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1186\/s40478-019-0815-2","article-title":"Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment","volume":"7","author":"Inoue","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1515\/jpem-2019-0453","article-title":"Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa","volume":"33","author":"Du","year":"2020","journal-title":"J. Pediatr. Endocrinol. Metab. JPEM"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1159\/000509335","article-title":"Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa","volume":"76","author":"Olgac","year":"2020","journal-title":"Ann. Nutr. Metab."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1002\/jimd.12224","article-title":"Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations","volume":"43","author":"Rossi","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"142","DOI":"10.23736\/S0026-4946.19.05496-3","article-title":"\u201cOn air\u201d diagnosis of sudden cardiac death with dynamic Holter ECG in glycogen storage disease type III young female","volume":"72","author":"Focardi","year":"2020","journal-title":"Minerva Pediatr."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"106205","DOI":"10.1016\/j.dib.2020.106205","article-title":"Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA","volume":"32","author":"Marusic","year":"2020","journal-title":"Data Brief"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"100821","DOI":"10.1016\/j.ymgmr.2021.100821","article-title":"A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III","volume":"29","author":"Hijazi","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"100904","DOI":"10.1016\/j.ymgmr.2022.100904","article-title":"Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa","volume":"32","author":"Daly","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1056\/NEJMoa0900661","article-title":"Glycogenin-1 deficiency and inactivated priming of glycogen synthesis","volume":"362","author":"Moslemi","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s10545-016-9978-1","article-title":"Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature","volume":"40","author":"Glamuzina","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1016\/j.nmd.2019.10.002","article-title":"Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency","volume":"29","author":"Kalev","year":"2019","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1210\/clinem\/dgz075","article-title":"Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage","volume":"105","author":"Visuttijai","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1002\/ana.24284","article-title":"A new muscle glycogen storage disease associated with glycogenin-1 deficiency","volume":"76","author":"Malfatti","year":"2014","journal-title":"Ann. Neurol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1056\/NEJMoa066691","article-title":"Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0","volume":"357","author":"Kollberg","year":"2007","journal-title":"N. Engl. J. Med."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.nmd.2011.08.008","article-title":"Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia","volume":"22","author":"Sukigara","year":"2012","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.ymgme.2009.07.012","article-title":"Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts","volume":"98","author":"Cameron","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3389\/fcell.2020.00031","article-title":"The Lysosomal Membrane Protein Lamp2 Alleviates Lysosomal Cell Death by Promoting Autophagic Flux in Ischemic Cardiomyocytes","volume":"8","author":"Cui","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"3355","DOI":"10.1091\/mbc.e02-02-0114","article-title":"Role of LAMP-2 in lysosome biogenesis and autophagy","volume":"13","author":"Eskelinen","year":"2002","journal-title":"Mol. Biol. Cell"},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1056\/NEJMoa033349","article-title":"Glycogen storage diseases presenting as hypertrophic cardiomyopathy","volume":"352","author":"Arad","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/35022604","article-title":"Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)","volume":"406","author":"Nishino","year":"2000","journal-title":"Nature"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1212\/WNL.58.12.1773","article-title":"Clinicopathological features of genetically confirmed Danon disease","volume":"58","author":"Sugie","year":"2002","journal-title":"Neurology"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/ana.10235","article-title":"Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)","volume":"52","author":"Takahashi","year":"2002","journal-title":"Ann. Neurol."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/S0960-8966(02)00179-7","article-title":"Danon\u2032s disease (X-linked vacuolar cardiomyopathy and myopathy): A case with a novel Lamp-2 gene mutation","volume":"12","author":"Garcia","year":"2002","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1016\/S0960-8966(03)00105-6","article-title":"Characterization of Danon disease in a male patient and his affected mother","volume":"13","author":"Sugie","year":"2003","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1136\/hrt.2003.029504","article-title":"Danon\u2032s disease as a cause of hypertrophic cardiomyopathy: A systematic survey","volume":"90","author":"Charron","year":"2004","journal-title":"Heart (Br. Card. Soc.)"},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1007\/s00431-005-1678-z","article-title":"Familial X-linked cardiomyopathy (Danon disease): Diagnostic confirmation by mutation analysis of the LAMP2gene","volume":"164","author":"Balmer","year":"2005","journal-title":"Eur. J. Pediatr."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/mus.20471","article-title":"Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease","volume":"33","author":"Mohr","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.2353\/ajpath.2006.050646","article-title":"Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease","volume":"168","author":"Fanin","year":"2006","journal-title":"Am. J. Pathol."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"757","DOI":"10.2169\/internalmedicine.46.6265","article-title":"LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy","volume":"46","author":"Sugimoto","year":"2007","journal-title":"Intern. Med."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1007\/s10038-007-0184-8","article-title":"Danon disease presenting with dilated cardiomyopathy and a complex phenotype","volume":"52","author":"Taylor","year":"2007","journal-title":"J. Hum. Genet."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1002\/mus.20930","article-title":"Danon disease due to a novel splice mutation in the LAMP2 gene","volume":"37","author":"Nadeau","year":"2008","journal-title":"Muscle Nerve"},{"key":"ref_170","first-page":"376","article-title":"Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy","volume":"73","author":"Dougu","year":"2009","journal-title":"Circ. J. Off. J. Jpn. Circ. Soc."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1001\/jama.2009.371","article-title":"Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy","volume":"301","author":"Maron","year":"2009","journal-title":"Jama"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"S115","DOI":"10.1007\/s10545-009-1097-9","article-title":"Danon disease: Case report and detection of new mutation","volume":"32","author":"Regelsberger","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.jacc.2009.11.019","article-title":"Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women","volume":"55","author":"Toib","year":"2010","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.amjcard.2011.09.024","article-title":"Sudden death associated with danon disease in women","volume":"109","author":"Miani","year":"2012","journal-title":"Am. J. Cardiol."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1093\/eurheartj\/ehr420","article-title":"Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy","volume":"33","author":"Cheng","year":"2012","journal-title":"Eur. Heart J."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.gene.2012.02.004","article-title":"Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency","volume":"498","author":"Majer","year":"2012","journal-title":"Gene"},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1055\/s-0033-1336017","article-title":"Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene","volume":"44","author":"Fidzianska","year":"2013","journal-title":"Neuropediatrics"},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/s10545-013-9617-z","article-title":"Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics","volume":"37","author":"Majer","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"332","DOI":"10.14503\/THIJ-13-3279","article-title":"Asymptomatic young man with Danon disease","volume":"41","author":"Kim","year":"2014","journal-title":"Tex. Heart Inst. J."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1111\/neup.12307","article-title":"Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene","volume":"36","author":"Sugie","year":"2016","journal-title":"Neuropathol. Off. J. Jpn. Soc. Neuropathol."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1161\/CIRCULATIONAHA.115.019847","article-title":"Amelioration of X-Linked Related Autophagy Failure in Danon Disease with DNA Methylation Inhibitor","volume":"134","author":"Ng","year":"2016","journal-title":"Circulation"},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1016\/j.nmd.2016.09.025","article-title":"Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease","volume":"26","author":"Marino","year":"2016","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"e39","DOI":"10.1016\/j.athoracsur.2016.07.022","article-title":"Implantation of a Left Ventricular Assist Device for Danon Cardiomyopathy","volume":"103","author":"Kitahara","year":"2017","journal-title":"Ann. Thorac. Surg."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.ijcard.2017.06.031","article-title":"Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy)","volume":"245","author":"Samad","year":"2017","journal-title":"Int. J. Cardiol."},{"key":"ref_185","first-page":"1469","article-title":"Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients with Dilated Cardiomyopathy","volume":"85","author":"Nguyen","year":"2021","journal-title":"Circ. J. Off. J. Jpn. Circ. Soc."},{"key":"ref_186","doi-asserted-by":"crossref","unstructured":"Sugie, K., Komaki, H., Eura, N., Shiota, T., Onoue, K., Tsukaguchi, H., Minami, N., Ogawa, M., Kiriyama, T., and Kataoka, H. (2018). A Nationwide Survey on Danon Disease in Japan. Int. J. Mol. Sci., 19.","DOI":"10.3390\/ijms19113507"},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"e638","DOI":"10.1002\/mgg3.638","article-title":"Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation","volume":"7","author":"Liu","year":"2019","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"103645","DOI":"10.1016\/j.ejmg.2019.04.002","article-title":"Heart transplantation in Danon disease: Long term single centre experience and review of the literature","volume":"63","author":"Miani","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1080\/13816810.2019.1627464","article-title":"Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene","volume":"40","author":"Meinert","year":"2019","journal-title":"Ophthalmic Genet."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"3326","DOI":"10.1038\/s41598-018-21602-8","article-title":"Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency","volume":"8","author":"Nguyen","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1016\/j.jaccas.2022.08.007","article-title":"Danon Cardiomyopathy: Specific Imaging Signs","volume":"4","author":"Miliou","year":"2022","journal-title":"JACC Case Rep."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.jjcc.2014.09.011","article-title":"Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes","volume":"66","author":"Hashida","year":"2015","journal-title":"J. Cardiol."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1042\/bst0310228","article-title":"Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome","volume":"31","author":"Gollob","year":"2003","journal-title":"Biochem. Soc. Trans."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/hmg\/10.11.1215","article-title":"Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: Evidence for the central role of energy compromise in disease pathogenesis","volume":"10","author":"Blair","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1172\/JCI0214571","article-title":"Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy","volume":"109","author":"Arad","year":"2002","journal-title":"J. Clin. Investig."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1046\/j.1540-8167.2003.02394.x","article-title":"Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome","volume":"14","author":"Vaughan","year":"2003","journal-title":"J. Cardiovasc. Electrophysiol."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.jacc.2004.11.053","article-title":"Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: Natural history","volume":"45","author":"Murphy","year":"2005","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1086\/430840","article-title":"Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency","volume":"76","author":"Burwinkel","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.nmd.2005.12.004","article-title":"A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis","volume":"16","author":"Richard","year":"2006","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1203\/PDR.0b013e3181462b86","article-title":"Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase","volume":"62","author":"Akman","year":"2007","journal-title":"Pediatr. Res."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1161\/CIRCEP.108.782862","article-title":"Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development","volume":"1","author":"Tan","year":"2008","journal-title":"Circ. Arrhythmia Electrophysiol."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"2407","DOI":"10.1038\/s41598-017-02455-z","article-title":"A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation","volume":"7","author":"Yang","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_203","first-page":"651","article-title":"High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations","volume":"19","author":"Thevenon","year":"2017","journal-title":"EP Eur."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1007\/s11596-020-2207-z","article-title":"Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q","volume":"40","author":"Hu","year":"2020","journal-title":"Curr. Med. Sci."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"7040","DOI":"10.1038\/s41598-021-86338-4","article-title":"Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing","volume":"11","author":"Beyzaei","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1002\/ana.23963","article-title":"Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1","volume":"74","author":"Nilsson","year":"2013","journal-title":"Ann. Neurol."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/ni.2457","article-title":"Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency","volume":"13","author":"Boisson","year":"2012","journal-title":"Nat. Immunol."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/ncb952","article-title":"Identification of the ubiquitin-protein ligase that recognizes oxidized IRP2","volume":"5","author":"Yamanaka","year":"2003","journal-title":"Nat. Cell Biol."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/gm471","article-title":"Whole-genome DNA\/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement","volume":"5","author":"Wang","year":"2013","journal-title":"Genome Med."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1007\/s00415-017-8710-x","article-title":"Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: Expanding the genotype-phenotype spectrum","volume":"265","author":"Krenn","year":"2018","journal-title":"J. Neurol."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1002\/jimd.12234","article-title":"RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature","volume":"43","author":"Phadke","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"3746","DOI":"10.1016\/j.febslet.2006.05.071","article-title":"Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: Potential new anticancer target for curcumin","volume":"580","author":"Belkaid","year":"2006","journal-title":"FEBS Lett."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1016\/j.ajhg.2021.04.013","article-title":"A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction","volume":"108","author":"Ng","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s12026-022-09320-w","article-title":"Novel mutation of SLC37A4 in a glycogen storage disease type Ib patient with neutropenia, horseshoe kidney, and arteriovenous malformation: A case report","volume":"71","author":"Meimand","year":"2022","journal-title":"Immunol. Res."},{"key":"ref_215","unstructured":"Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Mohnen, D., Kinoshita, T., Packer, N.H., and Prestegard, J.H. (2022). Essentials of Glycobiology, Cold Spring Harbor. [4th ed.]."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1002\/jimd.12367","article-title":"Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG","volume":"44","author":"Alsharhan","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1038\/s10038-020-0798-7","article-title":"ALG3-CDG: Lethal phenotype and novel variants in Chinese siblings","volume":"65","author":"Bian","year":"2020","journal-title":"J. Hum. Genet."},{"key":"ref_218","doi-asserted-by":"crossref","unstructured":"Farolfi, M., Cechova, A., Ondruskova, N., Zidkova, J., Kousal, B., Hansikova, H., Honzik, T., and Liskova, P. (2021). ALG3-CDG: A patient with novel variants and review of the genetic and ophthalmic findings. BMC Ophthalmol., 21.","DOI":"10.1186\/s12886-021-02013-2"},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"2614","DOI":"10.1002\/ajmg.a.38358","article-title":"Congenital disorders of glycosylation: The Saudi experience","volume":"173","author":"Alsubhi","year":"2017","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_220","first-page":"938","article-title":"Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus","volume":"40","author":"Himmelreich","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/1750-1172-5-7","article-title":"A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): A case report","volume":"5","author":"Mohamed","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.ymgme.2022.06.005","article-title":"Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature","volume":"136","author":"Himmelreich","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/ajmg.a.30851","article-title":"CDG-IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features","volume":"136","author":"Weinstein","year":"2005","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1093\/glycob\/cwp067","article-title":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient","volume":"19","author":"Vleugels","year":"2009","journal-title":"Glycobiology"},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1038\/ejhg.2015.91","article-title":"A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach\u2013Nishimura skeletal dysplasia due to pathogenic variants in ALG9","volume":"24","author":"Tham","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ymgmr.2017.08.004","article-title":"ALG9-CDG: New clinical case and review of the literature","volume":"13","author":"Davis","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1002\/ajmg.a.31791","article-title":"Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality","volume":"143","author":"Kranz","year":"2007","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"e1304","DOI":"10.1002\/mgg3.1304","article-title":"ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant","volume":"8","author":"Sabater","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.ymgme.2019.08.007","article-title":"Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature","volume":"128","author":"Tahata","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1023\/A:1005387408009","article-title":"The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)","volume":"21","author":"Kristiansson","year":"1998","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"6866","DOI":"10.1046\/j.1432-1033.2000.01781.x","article-title":"Cloning, expression and characterization of the pig liver GDP-mannose pyrophosphorylase. Evidence that GDP-mannose and GDP-Glc pyrophosphorylases are different proteins","volume":"267","author":"Ning","year":"2000","journal-title":"Eur. J. Biochem."},{"key":"ref_232","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1093\/brain\/awv013","article-title":"Expanding the phenotype of GMPPB mutations","volume":"138","author":"Ghaoui","year":"2015","journal-title":"Brain J. Neurol."},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ajhg.2013.05.009","article-title":"Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of \u03b1-dystroglycan","volume":"93","author":"Carss","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"e112","DOI":"10.1212\/NXG.0000000000000112","article-title":"Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)","volume":"2","author":"Oestergaard","year":"2016","journal-title":"Neurol. Genet."},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"1640","DOI":"10.1016\/j.bbagen.2015.12.017","article-title":"Genetic defects in the hexosamine and sialic acid biosynthesis pathway","volume":"1860","author":"Willems","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"e122373","DOI":"10.1172\/jci.insight.122373","article-title":"Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function","volume":"3","author":"Wen","year":"2018","journal-title":"JCI Insight"},{"key":"ref_237","doi-asserted-by":"crossref","unstructured":"Jin, G.Z., Zhang, Y., Cong, W.M., Wu, X., Wang, X., Wu, S., Wang, S., Zhou, W., Yuan, S., and Gao, H. (2018). Phosphoglucomutase 1 inhibits hepatocellular carcinoma progression by regulating glucose trafficking. PLoS Biol., 16.","DOI":"10.1371\/journal.pbio.2006483"},{"key":"ref_238","doi-asserted-by":"crossref","first-page":"129898","DOI":"10.1016\/j.bbagen.2021.129898","article-title":"Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look","volume":"1865","author":"Conte","year":"2021","journal-title":"Biochim. Biophys. Acta. Gen. Subj."},{"key":"ref_239","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ymgme.2020.08.003","article-title":"Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots","volume":"131","author":"Conte","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_240","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/jimd.12024","article-title":"International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up","volume":"42","author":"Altassan","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_241","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/jmd2.12177","article-title":"Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy","volume":"57","author":"Donoghue","year":"2021","journal-title":"JIMD Rep."},{"key":"ref_242","doi-asserted-by":"crossref","first-page":"100726","DOI":"10.1016\/j.ymgmr.2021.100726","article-title":"Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population","volume":"27","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.pedneo.2021.01.017","article-title":"Congenital disorders of glycosylation in children\u2013Histopathological and ultrastructural changes in the liver","volume":"62","author":"Czarnowska","year":"2021","journal-title":"Pediatr. Neonatol."},{"key":"ref_244","doi-asserted-by":"crossref","first-page":"4151","DOI":"10.1093\/hmg\/dds123","article-title":"Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing","volume":"21","author":"Timal","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_245","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1056\/NEJMoa1206605","article-title":"Multiple phenotypes in phosphoglucomutase 1 deficiency","volume":"370","author":"Tegtmeyer","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"ref_246","first-page":"87","article-title":"A case with rare type of congenital disorder of glycosylation: PGM1-CDG","volume":"26","author":"Kasapkara","year":"2015","journal-title":"Genet. Couns."},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"3139","DOI":"10.1002\/ajmg.a.37294","article-title":"Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency","volume":"167","author":"Loewenthal","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_248","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.jpeds.2016.04.021","article-title":"Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency","volume":"175","author":"Wong","year":"2016","journal-title":"J. Pediatr."},{"key":"ref_249","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/8904_2015_471","article-title":"News on Clinical Details and Treatment in PGM1-CDG","volume":"26","author":"Schrapers","year":"2016","journal-title":"JIMD Rep."},{"key":"ref_250","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1080\/17843286.2016.1142043","article-title":"PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure","volume":"71","author":"Zeevaert","year":"2016","journal-title":"Acta Clin. Belg."},{"key":"ref_251","first-page":"1226","article-title":"Oral D-galactose supplementation in PGM1-CDG","volume":"19","author":"Wong","year":"2017","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_252","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.nmd.2017.01.014","article-title":"PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose","volume":"27","author":"Voermans","year":"2017","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.ymgmr.2017.07.010","article-title":"Limitations of galactose therapy in phosphoglucomutase 1 deficiency","volume":"13","author":"Nolting","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_254","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1515\/jpem-2017-0551","article-title":"Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene","volume":"31","author":"Ding","year":"2018","journal-title":"J. Pediatr. Endocrinol. Metab. JPEM"},{"key":"ref_255","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.nmd.2019.01.001","article-title":"Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review","volume":"29","author":"Tian","year":"2019","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_256","doi-asserted-by":"crossref","first-page":"102111","DOI":"10.1016\/j.fsigen.2019.06.012","article-title":"The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood","volume":"43","author":"Fernlund","year":"2019","journal-title":"Forensic Sci. Int. Genet."},{"key":"ref_257","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1002\/jimd.12406","article-title":"A new D-galactose treatment monitoring index for PGM1-CDG","volume":"44","author":"Liedtke","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_258","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1093\/cvr\/cvp119","article-title":"Impaired binding of ZASP\/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy","volume":"83","author":"Arimura","year":"2009","journal-title":"Cardiovasc. Res."},{"key":"ref_259","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1007\/s00246-002-1497-1","article-title":"Carbohydrate-deficient glycoprotein syndrome-associated pericardial effusion treated with corticosteroids and salicylic acid","volume":"23","author":"Feldman","year":"2002","journal-title":"Pediatr. Cardiol."},{"key":"ref_260","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1007\/s00431-002-1029-2","article-title":"Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia","volume":"161","author":"Marquardt","year":"2002","journal-title":"Eur. J. Pediatr."},{"key":"ref_261","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1017\/S1047951103000702","article-title":"Cardiomyopathy in congenital disorders of glycosylation","volume":"13","author":"Gehrmann","year":"2003","journal-title":"Cardiol. Young"},{"key":"ref_262","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1007\/s00246-002-0399-6","article-title":"Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome","volume":"24","author":"Kusa","year":"2003","journal-title":"Pediatr. Cardiol."},{"key":"ref_263","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1097\/00005176-200403000-00010","article-title":"Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic","volume":"38","author":"Damen","year":"2004","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_264","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1007\/s00401-004-0975-3","article-title":"Congenital disorder of glycosylation type Ia: A clinicopathological report of a newborn infant with cerebellar pathology","volume":"109","author":"Aronica","year":"2005","journal-title":"Acta Neuropathol."},{"key":"ref_265","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/s00431-004-1611-x","article-title":"Unusual presentation of congenital disorder of glycosylation type 1a: Congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema","volume":"164","author":"Noelle","year":"2005","journal-title":"Eur. J. Pediatr."},{"key":"ref_266","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1136\/jmg.2006.044735","article-title":"Congenital disorder of glycosylation type Ia presenting with hydrops fetalis","volume":"44","author":"Lefeber","year":"2007","journal-title":"J. Med. Genet."},{"key":"ref_267","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1007\/s00415-007-0546-3","article-title":"Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening","volume":"254","author":"Vermeer","year":"2007","journal-title":"J. Neurol."},{"key":"ref_268","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.ymgme.2007.01.003","article-title":"Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients","volume":"90","author":"Schollen","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"ref_269","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/j.ymgme.2008.05.005","article-title":"Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia","volume":"94","author":"Truin","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"ref_270","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/ajmg.a.32119","article-title":"Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia","volume":"146","author":"Coman","year":"2008","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_271","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1136\/jmg.2008.057620","article-title":"Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)","volume":"46","author":"Romano","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_272","doi-asserted-by":"crossref","first-page":"S41","DOI":"10.1007\/s10545-009-1031-1","article-title":"Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation","volume":"32","author":"Thong","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_273","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/8904_2011_82","article-title":"Lymphatic edema in congenital disorders of glycosylation","volume":"4","author":"Verstegen","year":"2012","journal-title":"JIMD Rep."},{"key":"ref_274","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1007\/s00246-012-0214-y","article-title":"Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia","volume":"33","author":"Rudaks","year":"2012","journal-title":"Pediatr. Cardiol."},{"key":"ref_275","doi-asserted-by":"crossref","first-page":"bcr2013010037","DOI":"10.1136\/bcr-2013-010037","article-title":"Congenital disorders of glycosylation with neonatal presentation","volume":"2014","author":"Resende","year":"2014","journal-title":"BMJ Case Rep."},{"key":"ref_276","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1186\/s13023-015-0358-y","article-title":"Phosphomannomutase deficiency (PMM2-CDG): Ataxia and cerebellar assessment","volume":"10","author":"Serrano","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_277","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.ymgme.2016.12.014","article-title":"Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II","volume":"120","author":"Bruun","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_278","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1136\/jmedgenet-2017-104903","article-title":"Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature","volume":"54","author":"Schiff","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_279","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/s13256-017-1528-4","article-title":"Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: A case report","volume":"12","author":"Wu","year":"2018","journal-title":"J. Med. Case Rep."},{"key":"ref_280","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/jmd2.12160","article-title":"Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature","volume":"56","author":"Qian","year":"2020","journal-title":"JIMD Rep."},{"key":"ref_281","doi-asserted-by":"crossref","first-page":"100673","DOI":"10.1016\/j.ymgmr.2020.100673","article-title":"Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects","volume":"25","author":"Panagiotou","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_282","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1159\/000196816","article-title":"Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a","volume":"25","author":"Malhotra","year":"2009","journal-title":"Fetal Diagn. Ther."},{"key":"ref_283","doi-asserted-by":"crossref","first-page":"S313","DOI":"10.1007\/s10545-009-1262-1","article-title":"Cardiomyopathy in the congenital disorders of glycosylation (CDG): A case of late presentation and literature review","volume":"32","author":"Footitt","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_284","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/s13023-020-01657-5","article-title":"Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: Long-term follow-up","volume":"16","author":"Rokicki","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_285","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.cub.2014.11.049","article-title":"Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism","volume":"25","author":"Vasudevan","year":"2015","journal-title":"Curr. Biol. CB"},{"key":"ref_286","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1086\/507567","article-title":"Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase","volume":"79","author":"Kriek","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_287","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1002\/ajmg.a.32498","article-title":"Mutation analysis of B3GALTL in Peters Plus syndrome","volume":"146","author":"Reis","year":"2008","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_288","first-page":"1842","article-title":"A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome","volume":"149","author":"Naeem","year":"2009","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_289","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1111\/j.1399-0004.2009.01253.x","article-title":"Novel B3GALTL mutation in Peters-plus Syndrome","volume":"76","author":"Causse","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_290","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1111\/j.1741-4520.2010.00282.x","article-title":"Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: Proposal of a new syndrome","volume":"50","author":"Shimizu","year":"2010","journal-title":"Congenit. Anom."},{"key":"ref_291","doi-asserted-by":"crossref","first-page":"256","DOI":"10.3109\/13816810.2011.587082","article-title":"Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL","volume":"32","author":"Faletra","year":"2011","journal-title":"Ophthalmic Genet."},{"key":"ref_292","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1111\/cge.12241","article-title":"Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes","volume":"86","author":"Weh","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_293","doi-asserted-by":"crossref","unstructured":"Li, Y., Zhang, C., Zhang, H., Feng, W., Wang, Q., and Fan, R. (2022). Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: A case report and literature review. BMC Med. Genom., 15.","DOI":"10.1186\/s12920-022-01160-9"},{"key":"ref_294","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.ajhg.2011.05.021","article-title":"Faulty initiation of proteoglycan synthesis causes cardiac and joint defects","volume":"89","author":"Baasanjav","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"ref_295","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1002\/ajmg.a.36487","article-title":"Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype","volume":"164","author":"Tan","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_296","doi-asserted-by":"crossref","first-page":"2691","DOI":"10.1002\/ajmg.a.37209","article-title":"A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes","volume":"167","author":"Jones","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_297","doi-asserted-by":"crossref","unstructured":"Job, F., Mizumoto, S., Smith, L., Couser, N., Brazil, A., Saal, H., Patterson, M., Gibson, M.I., Soden, S., and Miller, N. (2016). Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: Expanding the disease phenotype. BMC Med. Genet., 17.","DOI":"10.1186\/s12881-016-0344-9"},{"key":"ref_298","first-page":"3941483","article-title":"Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies","volume":"2017","author":"Bloor","year":"2017","journal-title":"Case Rep. Genet."},{"key":"ref_299","first-page":"269","article-title":"B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation","volume":"20","author":"Yauy","year":"2018","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_300","doi-asserted-by":"crossref","unstructured":"Ritelli, M., Cinquina, V., Giacopuzzi, E., Venturini, M., Chiarelli, N., and Colombi, M. (2019). Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. Genes, 10.","DOI":"10.3390\/genes10090631"},{"key":"ref_301","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1111\/cge.12885","article-title":"Chondrodysplasia with multiple dislocations: Comprehensive study of a series of 30 cases","volume":"91","author":"Ranza","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_302","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.tcb.2020.11.003","article-title":"Fukutin-Related Protein: From Pathology to Treatments","volume":"31","author":"Azzag","year":"2021","journal-title":"Trends Cell Biol."},{"key":"ref_303","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/j.1399-0004.2010.01384.x","article-title":"A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum","volume":"78","author":"Brouwer","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_304","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1212\/01.WNL.0000058902.88181.3D","article-title":"The phenotype of limb-girdle muscular dystrophy type 2I","volume":"60","author":"Poppe","year":"2003","journal-title":"Neurology"},{"key":"ref_305","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/ana.10559","article-title":"Phenotypic spectrum associated with mutations in the fukutin-related protein gene","volume":"53","author":"Mercuri","year":"2003","journal-title":"Ann. Neurol."},{"key":"ref_306","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1002\/ana.20283","article-title":"Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I","volume":"56","author":"Poppe","year":"2004","journal-title":"Ann. Neurol."},{"key":"ref_307","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/s10048-003-0165-9","article-title":"New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families","volume":"5","author":"Louhichi","year":"2004","journal-title":"Neurogenetics"},{"key":"ref_308","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.nmd.2005.02.004","article-title":"Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation","volume":"15","author":"Krasnianski","year":"2005","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_309","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1001\/archneur.62.12.1894","article-title":"Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I","volume":"62","author":"Boito","year":"2005","journal-title":"Arch. Neurol."},{"key":"ref_310","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1212\/01.WNL.0000157654.59374.E5","article-title":"LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype","volume":"64","author":"Schwartz","year":"2005","journal-title":"Neurology"},{"key":"ref_311","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1002\/humu.20110","article-title":"The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations","volume":"25","author":"Frosk","year":"2005","journal-title":"Hum. Mutat."},{"key":"ref_312","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1007\/s00415-006-0213-0","article-title":"Cardiac involvement in limb-girdle muscular dystrophy 2I: Conventional cardiac diagnostic and cardiovascular magnetic resonance","volume":"253","author":"Gaul","year":"2006","journal-title":"J. Neurol."},{"key":"ref_313","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/ana.20824","article-title":"High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark","volume":"59","author":"Sveen","year":"2006","journal-title":"Ann. Neurol."},{"key":"ref_314","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.nmd.2007.09.013","article-title":"Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy","volume":"18","author":"Petrini","year":"2008","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_315","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.nmd.2008.06.365","article-title":"Cardiac assessment of limb-girdle muscular dystrophy 2I patients: An echography, Holter ECG and magnetic resonance imaging study","volume":"18","author":"Wahbi","year":"2008","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_316","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1055\/s-2008-1081465","article-title":"Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations","volume":"39","author":"Kefi","year":"2008","journal-title":"Neuropediatrics"},{"key":"ref_317","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1001\/archneur.65.9.1196","article-title":"Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy","volume":"65","author":"Sveen","year":"2008","journal-title":"Arch. Neurol."},{"key":"ref_318","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/mus.21432","article-title":"Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I","volume":"40","author":"Margeta","year":"2009","journal-title":"Muscle Nerve"},{"key":"ref_319","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1136\/jnnp.2007.141804","article-title":"Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients","volume":"80","author":"Bourteel","year":"2009","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_320","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1007\/s00392-011-0291-6","article-title":"The proteoglycan-dystrophin complex in genetic cardiomyopathies\u2014Lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I)","volume":"100","author":"Yilmaz","year":"2011","journal-title":"Clin. Res. Cardiol. Off. J. Ger. Card. Soc."},{"key":"ref_321","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.nmd.2012.05.006","article-title":"Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency","volume":"22","author":"Pane","year":"2012","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_322","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1093\/eurjhf\/hft057","article-title":"Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I","volume":"15","author":"Hollingsworth","year":"2013","journal-title":"Eur. J. Heart Fail."},{"key":"ref_323","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.nmd.2013.05.010","article-title":"Limb-girdle muscular dystrophy type 2I is not rare in Taiwan","volume":"23","author":"Liang","year":"2013","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_324","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.jns.2014.12.008","article-title":"Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy","volume":"348","author":"Schottlaender","year":"2015","journal-title":"J. Neurol. Sci."},{"key":"ref_325","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1080\/00207454.2017.1380640","article-title":"Limb-girdle muscular dystrophy type 2I: Two Chinese families and a review in Asian patients","volume":"128","author":"Wang","year":"2018","journal-title":"Int. J. Neurosci."},{"key":"ref_326","doi-asserted-by":"crossref","first-page":"e001893","DOI":"10.1161\/CIRCGEN.117.001893","article-title":"Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular Dystrophy","volume":"11","author":"Zhao","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_327","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1111\/cge.13544","article-title":"Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients","volume":"96","author":"Frankhuizen","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_328","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1002\/acn3.51042","article-title":"Global FKRP Registry: Observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9","volume":"7","author":"Murphy","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_329","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1002\/mus.27052","article-title":"Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related","volume":"62","author":"Libell","year":"2020","journal-title":"Muscle Nerve"},{"key":"ref_330","doi-asserted-by":"crossref","first-page":"e1187","DOI":"10.1542\/peds.2005-2469","article-title":"Cardiac involvement in Fukuyama-type congenital muscular dystrophy","volume":"117","author":"Nakanishi","year":"2006","journal-title":"Pediatrics"},{"key":"ref_331","first-page":"1823","article-title":"Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography","volume":"37","author":"Miura","year":"1987","journal-title":"Acta Pathol. Jpn."},{"key":"ref_332","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ana.20973","article-title":"Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness","volume":"60","author":"Murakami","year":"2006","journal-title":"Ann. Neurol."},{"key":"ref_333","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1111\/j.1399-0004.2007.00936.x","article-title":"Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome","volume":"73","author":"Cotarelo","year":"2008","journal-title":"Clin. Genet."},{"key":"ref_334","first-page":"39","article-title":"Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I","volume":"13","author":"Rosales","year":"2011","journal-title":"J. Cardiovasc. Magn. Reson. Off. J. Soc. Cardiovasc. Magn. Reson."},{"key":"ref_335","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1016\/j.nmd.2013.09.010","article-title":"Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia","volume":"23","author":"Fiorillo","year":"2013","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_336","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/j.ijcard.2016.08.011","article-title":"Fukutin gene mutations that cause left ventricular noncompaction","volume":"222","author":"Amiya","year":"2016","journal-title":"Int. J. Cardiol."},{"key":"ref_337","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/j.nmd.2018.08.001","article-title":"National registry of patients with Fukuyama congenital muscular dystrophy in Japan","volume":"28","author":"Ishigaki","year":"2018","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_338","doi-asserted-by":"crossref","first-page":"e1504","DOI":"10.1002\/mgg3.1504","article-title":"Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing","volume":"8","author":"Carnevale","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_339","doi-asserted-by":"crossref","unstructured":"Vad, O.B., Paludan-M\u00fcller, C., Ahlberg, G., Kalst\u00f8, S.M., Ghouse, J., Andreasen, L., Hauns\u00f8, S., Tveit, A., Sajadieh, A., and Christophersen, I.E. (2020). Loss-of-Function Variants in Cytoskeletal Genes Are Associated with Early-Onset Atrial Fibrillation. J. Clin. Med., 9.","DOI":"10.3390\/jcm9020372"},{"key":"ref_340","first-page":"132","article-title":"Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy","volume":"73","author":"Carnevale","year":"2020","journal-title":"Rev. Investig. Clin. Organo Hosp. Enferm. Nutr."},{"key":"ref_341","doi-asserted-by":"crossref","first-page":"e1709","DOI":"10.1002\/mgg3.1709","article-title":"Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs","volume":"9","author":"Manickam","year":"2021","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_342","doi-asserted-by":"crossref","unstructured":"Gaertner, A., Burr, L., Klauke, B., Brodehl, A., Laser, K.T., Klingel, K., Tiesmeier, J., Schulz, U., Knyphausen, E.Z., and Gummert, J. (2022). Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant \u03b1-Dystroglycan Pattern. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23126685"},{"key":"ref_343","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/s41525-022-00288-y","article-title":"Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy","volume":"7","author":"Lesurf","year":"2022","journal-title":"NPJ Genom. Med."},{"key":"ref_344","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/j.sbi.2003.09.003","article-title":"O-mannosyl glycans: From yeast to novel associations with human disease","volume":"13","author":"Willer","year":"2003","journal-title":"Curr. Opin. Struct. Biol."},{"key":"ref_345","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1038\/ejhg.2012.71","article-title":"Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy","volume":"20","author":"Bello","year":"2012","journal-title":"Eur. J. Hum. Genet. EJHG"},{"key":"ref_346","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1093\/brain\/awr357","article-title":"Cobblestone lissencephaly: Neuropathological subtypes and correlations with genes of dystroglycanopathies","volume":"135","author":"Devisme","year":"2012","journal-title":"Brain J. Neurol."},{"key":"ref_347","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/B978-0-08-045031-5.00004-9","article-title":"Congenital muscular dystrophies","volume":"101","author":"Sparks","year":"2011","journal-title":"Handb. Clin. Neurol."},{"key":"ref_348","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1038\/ejhg.2013.165","article-title":"Novel cardiovascular findings in association with a POMT2 mutation: Three siblings with \u03b1-dystroglycanopathy","volume":"22","author":"Martinez","year":"2014","journal-title":"Eur. J. Hum. Genet. EJHG"},{"key":"ref_349","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1212\/01.wnl.0000268489.60809.c4","article-title":"New POMT2 mutations causing congenital muscular dystrophy: Identification of a founder mutation","volume":"69","author":"Yanagisawa","year":"2007","journal-title":"Neurology"},{"key":"ref_350","first-page":"283","article-title":"Function of proteoglycans in the extracellular matrix","volume":"43","author":"Yanagishita","year":"1993","journal-title":"Acta Pathol. Jpn."},{"key":"ref_351","doi-asserted-by":"crossref","unstructured":"Wang, Q., and Chi, L. (2022). The Alterations and Roles of Glycosaminoglycans in Human Diseases. Polymers, 14.","DOI":"10.3390\/polym14225014"},{"key":"ref_352","doi-asserted-by":"crossref","first-page":"761264","DOI":"10.3389\/fgene.2021.761264","article-title":"Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype","volume":"12","author":"Doddato","year":"2021","journal-title":"Front. Genet."},{"key":"ref_353","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/j.ajhg.2015.04.017","article-title":"Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects","volume":"96","author":"Munns","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_354","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1002\/jbmr.2834","article-title":"Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum","volume":"31","author":"Taylan","year":"2016","journal-title":"J. Bone Miner. Res. Off. J. Am. Soc. Bone Miner. Res."},{"key":"ref_355","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1086\/512130","article-title":"A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy","volume":"80","author":"Kranz","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_356","doi-asserted-by":"crossref","unstructured":"Lefeber, D.J., de Brouwer, A.P., Morava, E., Riemersma, M., Schuurs-Hoeijmakers, J.H., Absmanner, B., Verrijp, K., van den Akker, W.M., Huijben, K., and Steenbergen, G. (2011). Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1002427"},{"key":"ref_357","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s10741-012-9302-6","article-title":"From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)","volume":"18","author":"Kapusta","year":"2013","journal-title":"Heart Fail. Rev."},{"key":"ref_358","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/j.ymgme.2013.09.016","article-title":"Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation","volume":"110","author":"Lieu","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_359","first-page":"235","article-title":"Case Report: A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG)","volume":"23","author":"Yu","year":"2022","journal-title":"Endocr. Metab. Immune Disord. Drug Targets"},{"key":"ref_360","doi-asserted-by":"crossref","first-page":"719624","DOI":"10.3389\/fgene.2021.719624","article-title":"Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis","volume":"12","author":"Komlosi","year":"2021","journal-title":"Front. Genet."},{"key":"ref_361","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1111\/cge.14208","article-title":"A recurrent homozygous missense DPM3 variant leads to muscle and brain disease","volume":"102","author":"Nagy","year":"2022","journal-title":"Clin. Genet."},{"key":"ref_362","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ajhg.2009.06.006","article-title":"Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies","volume":"85","author":"Lefeber","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_363","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1002\/jimd.12095","article-title":"Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG","volume":"42","author":"Michelakakis","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_364","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/jmd2.12060","article-title":"A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy","volume":"50","author":"Ashikov","year":"2019","journal-title":"JIMD Rep."},{"key":"ref_365","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1007\/s10545-018-0189-9","article-title":"Severe ichthyosis in MPDU1-CDG","volume":"41","author":"Thiel","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_366","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/ahg.12220","article-title":"Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs","volume":"82","author":"Bastaki","year":"2018","journal-title":"Ann. Hum. Genet."},{"key":"ref_367","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.cell.2010.06.001","article-title":"SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder","volume":"142","author":"Cantagrel","year":"2010","journal-title":"Cell"},{"key":"ref_368","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1016\/j.ejpn.2011.12.011","article-title":"SRD5A3-CDG: A patient with a novel mutation","volume":"16","author":"Kasapkara","year":"2012","journal-title":"Eur. J. Paediatr. Neurol. EJPN Off. J. Eur. Paediatr. Neurol. Soc."},{"key":"ref_369","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/8904_2015_478","article-title":"Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation","volume":"26","author":"Tuysuz","year":"2016","journal-title":"JIMD Rep."},{"key":"ref_370","doi-asserted-by":"crossref","first-page":"3165","DOI":"10.1002\/ajmg.a.37875","article-title":"SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features","volume":"170","author":"Wheeler","year":"2016","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_371","doi-asserted-by":"crossref","first-page":"737094","DOI":"10.3389\/fgene.2021.737094","article-title":"SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype","volume":"12","author":"Rehsi","year":"2021","journal-title":"Front. Genet."},{"key":"ref_372","doi-asserted-by":"crossref","first-page":"106530","DOI":"10.1016\/j.eplepsyres.2020.106530","article-title":"Deciphering the premature mortality in PIGA-CDG\u2013An untold story","volume":"170","author":"Bayat","year":"2021","journal-title":"Epilepsy Res."},{"key":"ref_373","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1002\/ajmg.a.37452","article-title":"A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2","volume":"170","author":"Fauth","year":"2016","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_374","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1111\/epi.16545","article-title":"Lessons learned from 40 novel PIGA patients and a review of the literature","volume":"61","author":"Bayat","year":"2020","journal-title":"Epilepsia"},{"key":"ref_375","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajmg.a.36184","article-title":"Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities","volume":"164","author":"Harakalova","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_376","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/ajmg.a.36189","article-title":"A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload","volume":"164","author":"Swoboda","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_377","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13023-015-0243-8","article-title":"The genotypic and phenotypic spectrum of PIGA deficiency","volume":"10","author":"Sinclair","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_378","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1136\/jmg.32.6.465","article-title":"Neuroectodermal (CHIME) syndrome: An additional case with long term follow up of all reported cases","volume":"32","author":"Shashi","year":"1995","journal-title":"J. Med. Genet."},{"key":"ref_379","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1111\/j.1525-1470.1996.tb00702.x","article-title":"Zunich neuroectodermal syndrome: Migratory ichthyosiform dermatosis, colobomas, and other abnormalities","volume":"13","author":"Tinschert","year":"1996","journal-title":"Pediatr. Dermatol."},{"key":"ref_380","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.ajhg.2012.02.010","article-title":"Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome","volume":"90","author":"Ng","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_381","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1002\/ajmg.a.38181","article-title":"Alu-mediated deletion of PIGL in a Patient with CHIME syndrome","volume":"173","author":"Schaefer","year":"2017","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_382","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1136\/jmg.2010.087114","article-title":"Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN","volume":"48","author":"Maydan","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_383","first-page":"201","article-title":"Partial monosomy 9p (9p22.2\u2192pter) and partial trisomy 18q (18q21.32\u2192qter) in a female infant with anorectal malformations","volume":"23","author":"Chen","year":"2012","journal-title":"Genet. Couns."},{"key":"ref_384","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.ejmg.2014.05.001","article-title":"Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia","volume":"57","author":"Brady","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"ref_385","doi-asserted-by":"crossref","first-page":"2176","DOI":"10.1002\/ajmg.a.37129","article-title":"The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review","volume":"167","author":"Couser","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_386","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/ajmg.a.37369","article-title":"Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)\/PIGN-related epilepsy","volume":"170","author":"Fleming","year":"2016","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_387","doi-asserted-by":"crossref","first-page":"594078","DOI":"10.3389\/fgene.2020.594078","article-title":"Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus with Hypotonia-Seizures Syndrome 1","volume":"11","author":"Xiao","year":"2020","journal-title":"Front. Genet."},{"key":"ref_388","doi-asserted-by":"crossref","unstructured":"Siavrien\u0117, E., Mald\u017eien\u0117, \u017d., Mik\u0161tien\u0117, V., Petraityt\u0117, G., Ran\u010delis, T., Dapk\u016bnas, J., Burnyt\u0117, B., Benu\u0161ien\u0117, E., Sasnauskien\u0117, A., and Grikinien\u0117, J. (2022). PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation. Medicina, 58.","DOI":"10.3390\/medicina58111526"},{"key":"ref_389","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1136\/jmedgenet-2013-101654","article-title":"A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT","volume":"50","author":"Kvarnung","year":"2013","journal-title":"J. Med. Genet."},{"key":"ref_390","doi-asserted-by":"crossref","first-page":"4088","DOI":"10.1093\/emboj\/20.15.4088","article-title":"PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8","volume":"20","author":"Ohishi","year":"2001","journal-title":"EMBO J."},{"key":"ref_391","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.ymgme.2015.04.007","article-title":"Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors","volume":"115","author":"Lam","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_392","first-page":"2216","article-title":"PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: Description of 13 novel patients and expansion of the clinical characteristics","volume":"21","author":"Bayat","year":"2019","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_393","doi-asserted-by":"crossref","first-page":"2776","DOI":"10.1002\/ajmg.a.38379","article-title":"Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome","volume":"173","author":"Reynolds","year":"2017","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_394","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/s13023-017-0654-9","article-title":"PIGO deficiency: Palmoplantar keratoderma and novel mutations","volume":"12","author":"Morren","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_395","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.ajhg.2012.05.004","article-title":"Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation","volume":"91","author":"Krawitz","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_396","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1212\/WNL.0b013e3182a8411a","article-title":"Vitamin B6-responsive epilepsy due to inherited GPI deficiency","volume":"81","author":"Kuki","year":"2013","journal-title":"Neurology"},{"key":"ref_397","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1002\/humu.23219","article-title":"Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties","volume":"38","author":"Tanigawa","year":"2017","journal-title":"Hum. Mutat."},{"key":"ref_398","doi-asserted-by":"crossref","first-page":"3764","DOI":"10.1073\/pnas.0507685103","article-title":"Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II","volume":"103","author":"Foulquier","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_399","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1093\/hmg\/ddn379","article-title":"Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1","volume":"18","author":"Zeevaert","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_400","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1111\/cge.13980","article-title":"COG1-congenital disorders of glycosylation: Milder presentation and review","volume":"100","author":"Salazar","year":"2021","journal-title":"Clin. Genet."},{"key":"ref_401","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.jpeds.2020.12.026","article-title":"Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience","volume":"231","author":"Quelhas","year":"2021","journal-title":"J. Pediatr."},{"key":"ref_402","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1038\/nm1041","article-title":"Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder","volume":"10","author":"Wu","year":"2004","journal-title":"Nat. Med."},{"key":"ref_403","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s10545-005-0015-z","article-title":"Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder","volume":"28","author":"Spaapen","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_404","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1038\/sj.ejhg.5201813","article-title":"A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia","volume":"15","author":"Morava","year":"2007","journal-title":"Eur. J. Hum. Genet. EJHG"},{"key":"ref_405","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.ajhg.2016.12.010","article-title":"Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa","volume":"100","author":"Gardeitchik","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_406","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1002\/jimd.12341","article-title":"Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa","volume":"44","author":"Vogt","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_407","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1007\/s00439-016-1660-z","article-title":"Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue","volume":"135","author":"Alazami","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_408","doi-asserted-by":"crossref","first-page":"1r","DOI":"10.1093\/glycob\/cwi041","article-title":"Lysosomal metabolism of glycoproteins","volume":"15","author":"Winchester","year":"2005","journal-title":"Glycobiology"},{"key":"ref_409","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/bs.accb.2016.08.002","article-title":"Carbohydrate-Processing Enzymes of the Lysosome: Diseases Caused by Misfolded Mutants and Sugar Mimetics as Correcting Pharmacological Chaperones","volume":"73","author":"Wrodnigg","year":"2016","journal-title":"Adv. Carbohydr. Chem. Biochem."},{"key":"ref_410","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1186\/s13023-022-02517-0","article-title":"Rare lysosomal disease registries: Lessons learned over three decades of real-world evidence","volume":"17","author":"Mistry","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_411","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1007\/BF00441610","article-title":"Clinical heterogeneity in infantile galactosialidosis","volume":"146","author":"Sewell","year":"1987","journal-title":"Eur. J. Pediatr."},{"key":"ref_412","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ajmg.1320370431","article-title":"Combined deficiency of beta-galactosidase and neuraminidase: Natural history of the disease in the first 18 years of an American patient with late infantile onset form","volume":"37","author":"Strisciuglio","year":"1990","journal-title":"Am. J. Med. Genet."},{"key":"ref_413","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1136\/jmg.29.6.423","article-title":"An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis","volume":"29","author":"Say","year":"1992","journal-title":"J. Med. Genet."},{"key":"ref_414","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/0887-8994(93)90073-L","article-title":"Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension","volume":"9","author":"Kyllerman","year":"1993","journal-title":"Pediatr. Neurol."},{"key":"ref_415","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1536\/ihj.35.635","article-title":"Echocardiographic findings in some metabolic storage diseases","volume":"35","author":"Senocak","year":"1994","journal-title":"Jpn. Heart J."},{"key":"ref_416","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1159\/000264289","article-title":"Nonimmune hydrops fetalis with galactosialidosis: Consequences for family planning","volume":"11","author":"Haverkamp","year":"1996","journal-title":"Fetal Diagn. Ther."},{"key":"ref_417","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1023\/A:1005546501043","article-title":"Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites","volume":"22","author":"Claeys","year":"1999","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_418","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1046\/j.1540-8175.2003.02139.x","article-title":"Mitral and aortic valve thickening associated with galactosialidosis: Echocardiographic features of a lysosomal storage disease","volume":"20","author":"Bursi","year":"2003","journal-title":"Echocardiography"},{"key":"ref_419","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.braindev.2008.01.012","article-title":"A case of galactosialidosis with a homozygous Q49R point mutation","volume":"30","author":"Matsumoto","year":"2008","journal-title":"Brain Dev."},{"key":"ref_420","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1007\/s11011-017-0042-0","article-title":"A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene","volume":"32","author":"Kartal","year":"2017","journal-title":"Metab. Brain Dis."},{"key":"ref_421","doi-asserted-by":"crossref","unstructured":"Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Levade, T., Astudillo, L., Serratrice, J., and Brassier, A. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18020441"},{"key":"ref_422","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1111\/j.1600-0404.1992.tb05109.x","article-title":"Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: A new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells","volume":"86","author":"Uyama","year":"1992","journal-title":"Acta Neurol. Scand."},{"key":"ref_423","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1002\/clc.4960151015","article-title":"Cardiac tamponade in a patient with Gaucher\u2032s disease","volume":"15","author":"Mester","year":"1992","journal-title":"Clin. Cardiol."},{"key":"ref_424","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1007\/BF00788233","article-title":"Gaucher\u2032s disease with mitral and aortic involvement: Echocardiographic findings","volume":"13","author":"Atalay","year":"1992","journal-title":"Pediatr. Cardiol."},{"key":"ref_425","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/BF00798223","article-title":"Gaucher\u2032s disease with mitral valve calcification","volume":"13","author":"Sharratt","year":"1992","journal-title":"Pediatr. Cardiol."},{"key":"ref_426","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/S0140-6736(95)91688-1","article-title":"Gaucher\u2032s disease variant characterised by progressive calcification of heart valves and unique genotype","volume":"346","author":"Abrahamov","year":"1995","journal-title":"Lancet"},{"key":"ref_427","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1016\/S0140-6736(95)91975-9","article-title":"1342C mutation in Gaucher\u2032s disease","volume":"346","author":"Beutler","year":"1995","journal-title":"Lancet"},{"key":"ref_428","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1136\/jmg.32.9.740","article-title":"Unusual expression of Gaucher\u2032s disease: Cardiovascular calcifications in three sibs homozygous for the D409H mutation","volume":"32","author":"Cormand","year":"1995","journal-title":"J. Med. Genet."},{"key":"ref_429","first-page":"211","article-title":"Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency","volume":"6","author":"Erduran","year":"1995","journal-title":"Genet. Couns."},{"key":"ref_430","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1007\/BF03178036","article-title":"Radiographic findings in type 3b Gaucher disease","volume":"26","author":"Hill","year":"1996","journal-title":"Pediatr. Radiol."},{"key":"ref_431","first-page":"305","article-title":"A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency","volume":"429","author":"Zeman","year":"1996","journal-title":"Virchows Arch. Int. J. Pathol."},{"key":"ref_432","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1006\/bmme.1996.0077","article-title":"The glucocerebrosidase D409H mutation in Gaucher disease","volume":"59","author":"Laadan","year":"1996","journal-title":"Biochem. Mol. Med."},{"key":"ref_433","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jmg.34.2.175","article-title":"D409H\/D409H genotype in Gaucher-like disease","volume":"34","author":"Uyama","year":"1997","journal-title":"J. Med. Genet."},{"key":"ref_434","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1023\/A:1008814105603","article-title":"The health-related quality of life of adults with Gaucher\u2032s disease receiving enzyme replacement therapy: Results from a retrospective study","volume":"7","author":"Damiano","year":"1998","journal-title":"Qual. Life Res. Int. J. Qual. Life Asp. Treat. Care Rehabil."},{"key":"ref_435","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1136\/jmg.35.9.775","article-title":"Recurrence of the D409H mutation in Spanish Gaucher disease patients: Description of a new homozygous patient and haplotype analysis","volume":"35","author":"Gort","year":"1998","journal-title":"J. Med. Genet."},{"key":"ref_436","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/S0002-9394(98)00249-9","article-title":"Corneal opacities in Gaucher disease","volume":"126","author":"Guemes","year":"1998","journal-title":"Am. J. Ophthalmol."},{"key":"ref_437","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1212\/WNL.54.1.261","article-title":"Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)","volume":"54","author":"Bohlega","year":"2000","journal-title":"Neurology"},{"key":"ref_438","doi-asserted-by":"crossref","first-page":"E69","DOI":"10.1161\/01.CIR.102.10.e69","article-title":"Type IIIC Gaucher\u2032s disease","volume":"102","author":"Cho","year":"2000","journal-title":"Circulation"},{"key":"ref_439","doi-asserted-by":"crossref","first-page":"E40","DOI":"10.1136\/jmg.37.11.e40","article-title":"Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease","volume":"37","author":"Stone","year":"2000","journal-title":"J. Med. Genet."},{"key":"ref_440","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1067\/mpd.2001.109789","article-title":"A new variant neuropathic type of Gaucher\u2032s disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules","volume":"138","author":"Inui","year":"2001","journal-title":"J. Pediatr."},{"key":"ref_441","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1111\/j.1651-2227.2001.tb00291.x","article-title":"Neurological features in Gaucher\u2032s disease during enzyme replacement therapy","volume":"90","author":"Ono","year":"2001","journal-title":"Acta Paediatr."},{"key":"ref_442","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1034\/j.1399-0004.2001.590511.x","article-title":"Severe valvular and aortic arch calcification in a patient with Gaucher\u2032s disease homozygous for the D409H mutation","volume":"59","author":"George","year":"2001","journal-title":"Clin. Genet."},{"key":"ref_443","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/bcmd.2001.0477","article-title":"Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: Outcome of enzyme replacement therapy","volume":"28","author":"Michelakakis","year":"2002","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_444","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/S1570-0232(02)00177-0","article-title":"Application of delayed extraction-matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in pericardial fluid, peritoneal fluid and serum from Gaucher disease patients","volume":"776","author":"Fujiwaki","year":"2002","journal-title":"J. Chromatogr. B Anal. Technol. Biomed. Life Sci."},{"key":"ref_445","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1590\/S1516-31802002000300008","article-title":"Gaucher\u2032s disease with myocardial involvement in pregnancy","volume":"120","author":"Torloni","year":"2002","journal-title":"Sao Paulo Med. J. Rev. Paul. De Med."},{"key":"ref_446","first-page":"600","article-title":"Gaucher disease in Arab patients at an Israeli referral clinic","volume":"10","author":"Brautbar","year":"2008","journal-title":"Isr. Med. Assoc. J. IMAJ"},{"key":"ref_447","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1053\/j.jvca.2009.05.006","article-title":"Undiagnosed type IIIc Gaucher disease in a child with aortic and mitral valve calcification: Perioperative complications after cardiac surgery","volume":"24","author":"Mireles","year":"2010","journal-title":"J. Cardiothorac. Vasc. Anesth."},{"key":"ref_448","doi-asserted-by":"crossref","first-page":"E26","DOI":"10.1002\/clc.20348","article-title":"Gaucher disease with communicating hydrocephalus and cardiac involvement","volume":"33","author":"Cindik","year":"2010","journal-title":"Clin. Cardiol."},{"key":"ref_449","first-page":"275","article-title":"An unusual presentation of Gaucher\u2032s disease: Aortic valve fibrosis in a patient homozygous for a rare G377S mutation","volume":"34","author":"Vrhovac","year":"2010","journal-title":"Coll. Antropol."},{"key":"ref_450","doi-asserted-by":"crossref","first-page":"820843","DOI":"10.1155\/2010\/820843","article-title":"Echocardiographic Assessment of Left Ventricular Function in Type 1 Gaucher\u2032s Disease","volume":"2010","author":"Kozelj","year":"2010","journal-title":"Adv. Hematol."},{"key":"ref_451","doi-asserted-by":"crossref","first-page":"E24","DOI":"10.1111\/j.1540-8175.2010.01253.x","article-title":"Aortic and mitral valve stenosis with regurgitation: Not due to rheumatic heart disease","volume":"28","author":"Talluto","year":"2011","journal-title":"Echocardiography"},{"key":"ref_452","first-page":"E4","article-title":"Gaucher\u2032s disease with valvular, myocardial and aortic involvement in a patient with oculomotor apraxia","volume":"11","author":"Aksu","year":"2011","journal-title":"Anadolu Kardiyol. Derg. AKD Anatol. J. Cardiol."},{"key":"ref_453","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1177\/0218492313513598","article-title":"Extensive vascular and valvular involvement in Gaucher disease","volume":"23","author":"Altunbas","year":"2015","journal-title":"Asian Cardiovasc. Thorac. Ann."},{"key":"ref_454","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1111\/echo.12759","article-title":"Left ventricular diastolic dysfunction in type I Gaucher disease: An echo Doppler study","volume":"32","author":"Barbato","year":"2015","journal-title":"Echocardiography"},{"key":"ref_455","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1007\/s12098-015-2025-7","article-title":"Gaucher\u2032s Disease with Cardiac Valve Calcification and Stenosis: A Rare Presentation due to Homozygous p.D409H Mutation in a North Indian Family","volume":"83","author":"Rastogi","year":"2016","journal-title":"Indian J. Pediatr."},{"key":"ref_456","doi-asserted-by":"crossref","first-page":"244","DOI":"10.2459\/JCM.0000000000000326","article-title":"The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients: Morphological and functional evaluations","volume":"18","author":"Roghi","year":"2017","journal-title":"J. Cardiovasc. Med."},{"key":"ref_457","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1017\/S1047951117000579","article-title":"Severe cardiac involvement in Gaucher type IIIC: A case report and review of the literature","volume":"27","author":"Keskin","year":"2017","journal-title":"Cardiol. Young"},{"key":"ref_458","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.bcmd.2016.10.002","article-title":"Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy","volume":"68","author":"Weinreb","year":"2018","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_459","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.3889\/oamjms.2018.271","article-title":"A Saudi Infant with Vici Syndrome: Case Report and Literature Review","volume":"6","author":"Alzahrani","year":"2018","journal-title":"Open Access Maced. J. Med. Sci."},{"key":"ref_460","doi-asserted-by":"crossref","first-page":"107","DOI":"10.2147\/TACG.S180995","article-title":"Aortic calcification in Gaucher disease: A case report","volume":"11","author":"Alsahli","year":"2018","journal-title":"Appl. Clin. Genet."},{"key":"ref_461","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1515\/jpem-2018-0549","article-title":"Two siblings with Gaucher type 3c: Different clinical presentations","volume":"32","author":"Karakoyun","year":"2019","journal-title":"J. Pediatr. Endocrinol. Metab. JPEM"},{"key":"ref_462","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.ymgme.2019.05.011","article-title":"Gaucher disease type 3c: New patients with unique presentations and review of the literature","volume":"127","author":"Kurolap","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_463","doi-asserted-by":"crossref","unstructured":"Lazea, C., Bucerzan, S., Al-Khzouz, C., Zimmermann, A., Vesa, \u0218.C., Na\u0219cu, I., Cre\u021b, V., Cri\u0219an, M., As\u0103voaie, C., and Miclea, D. (2021). Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study). Diagnostics, 11.","DOI":"10.3390\/diagnostics11060989"},{"key":"ref_464","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1111\/imj.15673","article-title":"No association of Gaucher disease with COVID-19-related outcomes: A nationwide cohort study","volume":"52","author":"Demirci","year":"2022","journal-title":"Intern. Med. J."},{"key":"ref_465","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.pharmthera.2009.01.003","article-title":"Fabry disease","volume":"122","author":"Schiffmann","year":"2009","journal-title":"Pharmacol. Ther."},{"key":"ref_466","doi-asserted-by":"crossref","first-page":"1025740","DOI":"10.3389\/fphar.2022.1025740","article-title":"Fabry disease: Mechanism and therapeutics strategies","volume":"13","author":"Li","year":"2022","journal-title":"Front. Pharmacol."},{"key":"ref_467","unstructured":"Mehta, A., Beck, M., and Sunder-Plassmann, G. (2006). Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis. Copyright \u00a9 2006, Oxford PharmaGenesis\u2122."},{"key":"ref_468","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.12669\/pjms.38.8.7063","article-title":"Fabry disease: Definition, Incidence, Clinical presentations and Treatment\u2013Focus on cardiac involvement","volume":"38","author":"Saeed","year":"2022","journal-title":"Pak. J. Med. Sci."},{"key":"ref_469","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1002\/mgg3.389","article-title":"Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study","volume":"6","author":"Germain","year":"2018","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_470","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1136\/jmg.2008.065904","article-title":"Natural course of Fabry disease: Changing pattern of causes of death in FOS\u2013Fabry Outcome Survey","volume":"46","author":"Mehta","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_471","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/humu.20147","article-title":"Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis","volume":"25","author":"Caciotti","year":"2005","journal-title":"Hum. Mutat."},{"key":"ref_472","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L","article-title":"beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement","volume":"15","author":"Morrone","year":"2000","journal-title":"Hum. Mutat."},{"key":"ref_473","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/ajcp\/55.2.237","article-title":"Cardiac lesions in a patient with familial neurovisceral lipidosis (generalized gangliosidosis)","volume":"55","author":"Hadley","year":"1971","journal-title":"Am. J. Clin. Pathol."},{"key":"ref_474","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/BF00439006","article-title":"Generalized gangliosidosis type II (juvenile GM1 gangliosidosis). A pathological, histochemical and ultrastructural study","volume":"120","author":"Gilbert","year":"1975","journal-title":"Z. Kinderheilkd."},{"key":"ref_475","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1136\/pgmj.52.605.159","article-title":"GM1-generalized gangliosidosis variant with cardiomegaly","volume":"52","author":"Benson","year":"1976","journal-title":"Postgrad. Med. J."},{"key":"ref_476","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/BF00442086","article-title":"Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency","volume":"139","author":"Sieg","year":"1982","journal-title":"Eur. J. Pediatr."},{"key":"ref_477","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/S0022-3476(85)80472-8","article-title":"Cardiac involvement in diseases characterized by beta-galactosidase deficiency","volume":"106","author":"Rosenberg","year":"1985","journal-title":"J. Pediatr."},{"key":"ref_478","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/0167-5273(86)90226-3","article-title":"Peripheral arteriovenous fistula as a cause of neonatal cardiac failure","volume":"10","author":"Morgan","year":"1986","journal-title":"Int. J. Cardiol."},{"key":"ref_479","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/1423-0127-17-79","article-title":"Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity","volume":"17","author":"Yang","year":"2010","journal-title":"J. Biomed. Sci."},{"key":"ref_480","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.ymgme.2008.04.012","article-title":"GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects","volume":"94","author":"Scaglia","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"ref_481","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.ymgme.2021.01.008","article-title":"Morquio B disease: From pathophysiology towards diagnosis","volume":"132","author":"Caciotti","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_482","first-page":"839","article-title":"Morquio\u2032s syndrome: Severe aortic regurgitation and late pulmonary autograft failure","volume":"15","author":"Barry","year":"2006","journal-title":"J. Heart Valve Dis."},{"key":"ref_483","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.carpath.2018.04.001","article-title":"Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient","volume":"35","author":"Dostalova","year":"2018","journal-title":"Cardiovasc. Pathol. Off. J. Soc. Cardiovasc. Pathol."},{"key":"ref_484","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1046\/j.1440-1754.2002.00765.x","article-title":"Cardiac involvement in infantile Sandhoff disease","volume":"38","author":"Venugopalan","year":"2002","journal-title":"J. Paediatr. Child Health"},{"key":"ref_485","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.ejmg.2014.12.009","article-title":"Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease","volume":"58","author":"Hufnagel","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"ref_486","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.braindev.2016.09.006","article-title":"Early cardiac involvement in an infantile Sandhoff disease case with novel mutations","volume":"39","author":"Lee","year":"2017","journal-title":"Brain Dev."},{"key":"ref_487","first-page":"1088","article-title":"Identification of Sandhoff disease in a Thai family: Clinical and biochemical characterization","volume":"93","author":"Sakpichaisakul","year":"2010","journal-title":"J. Med. Assoc. Thail. Chotmaihet Thangphaet"},{"key":"ref_488","doi-asserted-by":"crossref","unstructured":"Tim-Aroon, T., Wichajarn, K., Katanyuwong, K., Tanpaiboon, P., Vatanavicharn, N., Sakpichaisakul, K., Kongkrapan, A., Eu-Ahsunthornwattana, J., Thongpradit, S., and Moolsuwan, K. (2021). Infantile onset Sandhoff disease: Clinical manifestation and a novel common mutation in Thai patients. BMC Pediatr., 21.","DOI":"10.1186\/s12887-020-02481-3"},{"key":"ref_489","doi-asserted-by":"crossref","first-page":"2329048x221139495","DOI":"10.1177\/2329048X221139495","article-title":"Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients with Infantile Sandhoff Disease","volume":"9","author":"Ozaal","year":"2022","journal-title":"Child Neurol. Open"},{"key":"ref_490","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1186\/s13256-022-03550-0","article-title":"Infantile Sandhoff disease with ventricular septal defect: A case report","volume":"16","author":"Sahyouni","year":"2022","journal-title":"J. Med. Case Rep."},{"key":"ref_491","doi-asserted-by":"crossref","unstructured":"Hampe, C.S., Eisengart, J.B., Lund, T.C., Orchard, P.J., Swietlicka, M., Wesley, J., and McIvor, R.S. (2020). Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology. Cells, 9.","DOI":"10.3390\/cells9081838"},{"key":"ref_492","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1378\/chest.96.1.209","article-title":"Combined aortic and mitral valve replacement in an adult with Scheie\u2032s disease","volume":"96","author":"Butman","year":"1989","journal-title":"Chest"},{"key":"ref_493","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/0030-4220(90)90181-Q","article-title":"Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency)","volume":"70","author":"Keith","year":"1990","journal-title":"Oral Surg. Oral Med. Oral Pathol."},{"key":"ref_494","first-page":"49","article-title":"A case of mucopolysaccharidoses type I with heart involvement during infancy","volume":"32","author":"Demirsoy","year":"1990","journal-title":"Turk. J. Pediatr."},{"key":"ref_495","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1213\/00000539-199211000-00032","article-title":"Management of a difficult airway in a patient with Hurler-Scheie syndrome during cardiac surgery","volume":"75","author":"Nicolson","year":"1992","journal-title":"Anesth. Analg."},{"key":"ref_496","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1097\/00003072-199411000-00008","article-title":"Resting Tl-201 scintigraphy in the evaluation of coronary artery disease in children with Hurler syndrome","volume":"19","author":"Weinberg","year":"1994","journal-title":"Clin. Nucl. Med."},{"key":"ref_497","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/j.1442-200X.1994.tb03125.x","article-title":"Long-term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lysosomal storage diseases","volume":"36","author":"Imaizumi","year":"1994","journal-title":"Acta Paediatr. Jpn. Overseas Ed."},{"key":"ref_498","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1253\/jcj.62.700","article-title":"Surgical treatment for Scheie\u2032s syndrome (mucopolysaccharidosis type I-S): Report of two cases","volume":"62","author":"Minakata","year":"1998","journal-title":"Jpn. Circ. J."},{"key":"ref_499","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1056\/NEJM200101183440304","article-title":"Enzyme-replacement therapy in mucopolysaccharidosis I","volume":"344","author":"Kakkis","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"ref_500","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/S0002-9149(03)00909-3","article-title":"Usefulness of bone marrow transplantation in the Hurler syndrome","volume":"92","author":"Braunlin","year":"2003","journal-title":"Am. J. Cardiol."},{"key":"ref_501","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1111\/j.1651-2227.2005.tb02004.x","article-title":"Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I","volume":"94","author":"Vijay","year":"2005","journal-title":"Acta Paediatr."},{"key":"ref_502","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1007\/s10545-005-0211-x","article-title":"Mucopolysaccharidosis I under enzyme replacement therapy with laronidase\u2014A mortality case with autopsy report","volume":"28","author":"Lin","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_503","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1111\/j.1365-263X.2006.00712.x","article-title":"Hurler\u2032s syndrome: Dental findings in a case treated with bone marrow transplantation in infancy","volume":"16","author":"Hingston","year":"2006","journal-title":"Int. J. Paediatr. Dent."},{"key":"ref_504","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.amjcard.2006.02.047","article-title":"Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I","volume":"98","author":"Braunlin","year":"2006","journal-title":"Am. J. Cardiol."},{"key":"ref_505","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ymgme.2006.08.007","article-title":"A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years","volume":"90","author":"Sifuentes","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"ref_506","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1007\/s00431-006-0316-8","article-title":"Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I","volume":"166","author":"Tokic","year":"2007","journal-title":"Eur. J. Pediatr."},{"key":"ref_507","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1007\/s10545-007-0586-y","article-title":"Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I","volume":"30","author":"Soliman","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_508","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1007\/s10545-007-0613-z","article-title":"Successful treatment of severe heart failure in an infant with Hurler syndrome","volume":"30","author":"Hirth","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_509","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/sj.bmt.1705926","article-title":"Allogeneic hematopoietic cell transplantation (HCT) in Hurler\u2032s syndrome using a reduced intensity preparative regimen","volume":"41","author":"Hansen","year":"2008","journal-title":"Bone Marrow Transplant."},{"key":"ref_510","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1007\/s00380-007-1013-x","article-title":"The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness","volume":"23","author":"Nemes","year":"2008","journal-title":"Heart Vessel."},{"key":"ref_511","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/j.patbio.2008.05.005","article-title":"Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia","volume":"57","author":"Khedhiri","year":"2009","journal-title":"Pathol.-Biol."},{"key":"ref_512","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1017\/S1047951109003576","article-title":"The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses","volume":"19","author":"Corti","year":"2009","journal-title":"Cardiol. Young"},{"key":"ref_513","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s10545-009-1057-4","article-title":"Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy","volume":"32","author":"Yano","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_514","first-page":"214","article-title":"Combined aortic and mitral valve replacement in a child with mucopolysaccharidosis type I: A case report","volume":"18","author":"Goksel","year":"2009","journal-title":"J. Heart Valve Dis."},{"key":"ref_515","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s12519-009-0062-x","article-title":"Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I\/Hurler","volume":"5","author":"Reilly","year":"2009","journal-title":"World J. Pediatr. WJP"},{"key":"ref_516","first-page":"402","article-title":"Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence","volume":"15","author":"Bahadir","year":"2009","journal-title":"J. Clin. Rheumatol. Pract. Rep. Rheum. Musculoskelet. Dis."},{"key":"ref_517","doi-asserted-by":"crossref","first-page":"e183","DOI":"10.1542\/peds.2009-1728","article-title":"Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up","volume":"125","author":"Gabrielli","year":"2010","journal-title":"Pediatrics"},{"key":"ref_518","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/s10545-010-9113-7","article-title":"Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I","volume":"33","author":"Thomas","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_519","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.jns.2010.11.022","article-title":"Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-L-iduronidase gene","volume":"302","author":"Furukawa","year":"2011","journal-title":"J. Neurol. Sci."},{"key":"ref_520","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1017\/S1047951110002015","article-title":"Aortic stenosis in a patient with Hurler\u2032s syndrome after bone marrow transplantation","volume":"21","author":"Watanabe","year":"2011","journal-title":"Cardiol. Young"},{"key":"ref_521","doi-asserted-by":"crossref","first-page":"e1343","DOI":"10.1542\/peds.2009-2047","article-title":"Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I","volume":"127","author":"Backx","year":"2011","journal-title":"Pediatrics"},{"key":"ref_522","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.ymgme.2011.03.016","article-title":"Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I","volume":"103","author":"Harada","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_523","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1007\/s10545-011-9336-2","article-title":"Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world","volume":"34","author":"Bay","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_524","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1111\/j.1399-3046.2011.01595.x","article-title":"Variable disease progression after successful stem cell transplantation: Prospective follow-up investigations in eight patients with Hurler syndrome","volume":"15","author":"Grigull","year":"2011","journal-title":"Pediatr. Transplant."},{"key":"ref_525","first-page":"371","article-title":"Sudden vision loss in a mucopolysaccharidosis I patient receiving enzyme replacement therapy","volume":"22","author":"Yosunkaya","year":"2011","journal-title":"Genet. Couns."},{"key":"ref_526","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ejcts.2011.06.013","article-title":"Valve surgery in a mucopolysaccharidosis type I patient: Early prosthetic valve endocarditis","volume":"41","author":"Rocha","year":"2012","journal-title":"Eur. J. Cardio-Thorac. Surg. Off. J. Eur. Assoc. Cardio-Thorac. Surg."},{"key":"ref_527","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.jpedsurg.2011.09.042","article-title":"High rate of postoperative mortality in patients with mucopolysaccharidosis I: Findings from the MPS I Registry","volume":"47","author":"Arn","year":"2012","journal-title":"J. Pediatr. Surg."},{"key":"ref_528","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1016\/j.ymgme.2012.06.001","article-title":"Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: Comment on pathogenesis of a novel complication","volume":"106","author":"Cabrera","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"ref_529","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.pediatrneurol.2012.08.010","article-title":"Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): A 6.5-year detailed follow-up","volume":"47","author":"Jurecka","year":"2012","journal-title":"Pediatr. Neurol."},{"key":"ref_530","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s10545-012-9500-3","article-title":"Management of mucopolysaccharidosis type IH (Hurler\u2032s syndrome) presenting in infancy with severe dilated cardiomyopathy: A single institution\u2032s experience","volume":"36","author":"Wiseman","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_531","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s10545-013-9630-2","article-title":"Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference center","volume":"37","author":"Garin","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_532","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.carpath.2014.01.001","article-title":"Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review","volume":"23","author":"Braunlin","year":"2014","journal-title":"Cardiovasc. Pathol. Off. J. Soc. Cardiovasc. Pathol."},{"key":"ref_533","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1182\/blood-2014-11-608075","article-title":"Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: An international multicenter study","volume":"125","author":"Aldenhoven","year":"2015","journal-title":"Blood"},{"key":"ref_534","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1186\/s13023-015-0344-4","article-title":"Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: A retrospective case series analysis of nine sibships","volume":"10","author":"Bay","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_535","doi-asserted-by":"crossref","first-page":"bcr2015211551","DOI":"10.1136\/bcr-2015-211551","article-title":"Urgent resection of a giant left atrial appendage aneurysm and mitral valve replacement in a complex case of Hurler-Scheie syndrome","volume":"2015","author":"Brazier","year":"2015","journal-title":"BMJ Case Rep."},{"key":"ref_536","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.ymgme.2016.01.011","article-title":"Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres","volume":"117","author":"Ghosh","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_537","doi-asserted-by":"crossref","unstructured":"Gabrielli, O., Clarke, L.A., Ficcadenti, A., Santoro, L., Zampini, L., Volpi, N., and Coppa, G.V. (2016). 12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: The important role of early treatment. BMC Med. Genet., 17.","DOI":"10.1186\/s12881-016-0284-4"},{"key":"ref_538","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s13023-016-0437-8","article-title":"Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: A multinational, retrospective, chart review case series","volume":"11","author":"Horovitz","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_539","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.jpeds.2016.08.033","article-title":"Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I","volume":"178","author":"Laraway","year":"2016","journal-title":"J. Pediatr."},{"key":"ref_540","doi-asserted-by":"crossref","unstructured":"Bolourchi, M., Renella, P., and Wang, R.Y. (2016). Aortic Root Dilatation in Mucopolysaccharidosis I-VII. Int. J. Mol. Sci., 17.","DOI":"10.3390\/ijms17122004"},{"key":"ref_541","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1016\/j.amjcard.2017.08.001","article-title":"Outcome of Combined Mitral and Aortic Valve Replacement in Adults with Mucopolysaccharidosis (the Hurler Syndrome)","volume":"120","author":"Robinson","year":"2017","journal-title":"Am. J. Cardiol."},{"key":"ref_542","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s13023-017-0583-7","article-title":"Early disease progression of Hurler syndrome","volume":"12","author":"Kiely","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_543","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/s10545-017-0034-6","article-title":"Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation","volume":"40","author":"Lum","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_544","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/j.jped.2018.05.006","article-title":"Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two-dimensional speckle-tracking method","volume":"95","author":"Andrade","year":"2019","journal-title":"J. Pediatr."},{"key":"ref_545","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.ymgme.2018.11.007","article-title":"Hematopoietic cell transplantation for severe MPS I in the first six months of life: The heart of the matter","volume":"126","author":"Braunlin","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_546","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1016\/j.braindev.2019.01.008","article-title":"Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings","volume":"41","author":"Yamazaki","year":"2019","journal-title":"Brain Dev."},{"key":"ref_547","first-page":"161","article-title":"Mucopolysaccharidosis Type I in Children, a Forgotten Diagnosis Responsible for Undiagnosed Musculoskeletal Complaints: Report of Two Cases","volume":"62","author":"Moghadam","year":"2019","journal-title":"Acta Med."},{"key":"ref_548","doi-asserted-by":"crossref","first-page":"Np22","DOI":"10.1177\/2150135117690105","article-title":"Mucopolysaccharidoses Causing Valvular Heart Disease: Report and Review of Surgical Management","volume":"11","author":"Encarnacion","year":"2020","journal-title":"World J. Pediatr. Congenit. Heart Surg."},{"key":"ref_549","doi-asserted-by":"crossref","first-page":"e1058","DOI":"10.1002\/mgg3.1058","article-title":"Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree","volume":"8","author":"Zhou","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_550","doi-asserted-by":"crossref","first-page":"100662","DOI":"10.1016\/j.ymgmr.2020.100662","article-title":"Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I","volume":"25","author":"Sugiura","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_551","first-page":"31","article-title":"Combined Aortic and Mitral Valve Stenosis in Mucopolysaccharidosis Syndrome Type I-S: A Report of a Rare Case","volume":"16","author":"Sadeghian","year":"2021","journal-title":"J. Tehran Heart Cent."},{"key":"ref_552","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s00431-007-0635-4","article-title":"Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy","volume":"167","author":"Wraith","year":"2008","journal-title":"Eur. J. Pediatr."},{"key":"ref_553","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/s13023-016-0471-6","article-title":"Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995\u20132012","volume":"11","author":"Lin","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_554","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1055\/s-2008-1071352","article-title":"Severe type Hunter\u2032s syndrome. Polysomnographic and neuropathological study","volume":"23","author":"Kurihara","year":"1992","journal-title":"Neuropediatrics"},{"key":"ref_555","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/S1054-8807(01)00099-0","article-title":"Left ventricular aneurysm, aortic valve disease and coronary narrowing in a patient with Hunter\u2032s syndrome","volume":"11","author":"Kettles","year":"2002","journal-title":"Cardiovasc. Pathol. Off. J. Soc. Cardiovasc. Pathol."},{"key":"ref_556","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1111\/j.1651-2227.2002.tb03330.x","article-title":"Cardiovascular changes in children with mucopolysaccharide disorders","volume":"91","author":"Mohan","year":"2002","journal-title":"Acta Paediatr."},{"key":"ref_557","doi-asserted-by":"crossref","first-page":"1911","DOI":"10.1016\/j.athoracsur.2004.06.021","article-title":"Mitral valve replacement for mitral stenosis secondary to Hunter\u2032s syndrome","volume":"80","author":"Bhattacharya","year":"2005","journal-title":"Ann. Thorac. Surg."},{"key":"ref_558","first-page":"273","article-title":"Prospective study of 11 Brazilian patients with mucopolysaccharidosis II","volume":"82","author":"Pinto","year":"2006","journal-title":"J. Pediatr."},{"key":"ref_559","first-page":"1054","article-title":"Cerebral infarction in Hunter syndrome","volume":"13","author":"Neely","year":"2006","journal-title":"J. Clin. Neurosci. Off. J. Neurosurg. Soc. Australas."},{"key":"ref_560","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/j.jpeds.2008.11.041","article-title":"Bone marrow transplantation in children with Hunter syndrome: Outcome after 7 to 17 years","volume":"154","author":"Guffon","year":"2009","journal-title":"J. Pediatr."},{"key":"ref_561","doi-asserted-by":"crossref","first-page":"E54","DOI":"10.1532\/HSF98.20081108","article-title":"Mitral valve replacement and Hunter syndrome: Case report","volume":"12","author":"Antoniou","year":"2009","journal-title":"Heart Surg. Forum"},{"key":"ref_562","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ymgme.2009.08.006","article-title":"Japan Elaprase Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)","volume":"99","author":"Okuyama","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_563","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.jpeds.2011.01.054","article-title":"Prevalence and characterization of cardiac involvement in Hunter syndrome","volume":"159","author":"Kampmann","year":"2011","journal-title":"J. Pediatr."},{"key":"ref_564","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1016\/j.ymgme.2011.09.004","article-title":"Carotid intima-media thickness is increased in patients with mucopolysaccharidoses","volume":"104","author":"Wang","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_565","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/ajmg.a.34371","article-title":"Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases","volume":"158","author":"Sohn","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_566","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.carpath.2011.10.004","article-title":"The first cardiac transplant experience in a patient with mucopolysaccharidosis","volume":"21","author":"Grinberg","year":"2012","journal-title":"Cardiovasc. Pathol. Off. J. Soc. Cardiovasc. Pathol."},{"key":"ref_567","doi-asserted-by":"crossref","first-page":"199","DOI":"10.5543\/tkda.2012.01795","article-title":"Echocardiographic demonstration of isolated mitral valve involvement in a patient with mucopolysaccharidosis","volume":"40","author":"Uluganyan","year":"2012","journal-title":"Turk Kardiyol. Dern. Ars. Turk Kardiyol. Dern. Yayin. Organidir"},{"key":"ref_568","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.ymgme.2012.09.004","article-title":"Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan","volume":"107","author":"Tanaka","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"ref_569","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/8904_2011_90","article-title":"Report of a Large Brazilian Family with a Very Attenuated Form of Hunter Syndrome (MPS II)","volume":"4","author":"Quaio","year":"2012","journal-title":"JIMD Rep."},{"key":"ref_570","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/s10545-011-9444-z","article-title":"Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI","volume":"36","author":"Brands","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_571","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.ymgme.2012.12.010","article-title":"Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings","volume":"108","author":"Tajima","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_572","doi-asserted-by":"crossref","first-page":"2077","DOI":"10.1007\/s00246-013-0653-0","article-title":"Massive accumulation of glycosaminoglycans in the aortic valve of a patient with Hunter syndrome during enzyme replacement therapy","volume":"34","author":"Sato","year":"2013","journal-title":"Pediatr. Cardiol."},{"key":"ref_573","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1007\/s10545-014-9686-7","article-title":"Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: An international case series","volume":"37","author":"Lampe","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_574","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.ymgme.2014.02.009","article-title":"Cardiovascular abnormalities in Taiwanese patients with mucopolysaccharidosis","volume":"111","author":"Lin","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"ref_575","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1186\/s13023-014-0129-1","article-title":"Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years","volume":"9","author":"Tomanin","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_576","doi-asserted-by":"crossref","first-page":"bcr2015209359","DOI":"10.1136\/bcr-2015-209359","article-title":"Hunter syndrome with its typical heart: A close mimic to rheumatic heart","volume":"2015","author":"Madireddi","year":"2015","journal-title":"BMJ Case Rep."},{"key":"ref_577","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/j.medcli.2015.06.015","article-title":"Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome","volume":"145","year":"2015","journal-title":"Med. Clin."},{"key":"ref_578","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.ymgmr.2015.03.011","article-title":"Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients","volume":"3","author":"Parini","year":"2015","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_579","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.ymgme.2016.02.003","article-title":"Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI","volume":"117","author":"Lin","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_580","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/8904_2016_535","article-title":"Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II","volume":"33","author":"Alkhzouz","year":"2017","journal-title":"JIMD Rep."},{"key":"ref_581","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1177\/2150135116664701","article-title":"Left Main Coronary Artery Atresia in an Infant with Inclusion-Cell Disease","volume":"9","author":"Bounds","year":"2018","journal-title":"World J. Pediatr. Congenit. Heart Surg."},{"key":"ref_582","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1017\/S1047951118000215","article-title":"Early childhood onset of high-grade atrioventricular block in Hunter syndrome","volume":"28","author":"Chlebowski","year":"2018","journal-title":"Cardiol. Young"},{"key":"ref_583","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/s40981-018-0162-5","article-title":"Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome)","volume":"4","author":"Suzuki","year":"2018","journal-title":"JA Clin. Rep."},{"key":"ref_584","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/8904_2018_104","article-title":"Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series","volume":"41","author":"Selvanathan","year":"2018","journal-title":"JIMD Rep."},{"key":"ref_585","doi-asserted-by":"crossref","first-page":"e297","DOI":"10.1016\/j.athoracsur.2019.03.011","article-title":"Visual Loss Post Ross Procedure in an Adolescent with Newly Diagnosed Mucopolysaccharidosis Type II","volume":"108","author":"Curran","year":"2019","journal-title":"Ann. Thorac. Surg."},{"key":"ref_586","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.ymgme.2019.07.016","article-title":"Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England","volume":"129","author":"Broomfield","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_587","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1007\/s00246-019-02267-0","article-title":"Enzyme Replacement Therapy Decreases Left Ventricular Mass Index in Patients with Hunter Syndrome?","volume":"41","author":"Cirino","year":"2020","journal-title":"Pediatr. Cardiol."},{"key":"ref_588","doi-asserted-by":"crossref","unstructured":"Suzuki, Y., Taylor, M., Orii, K., Fukao, T., Orii, T., and Tomatsu, S. (2020). Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation. Diagnostics, 10.","DOI":"10.3390\/diagnostics10010046"},{"key":"ref_589","doi-asserted-by":"crossref","unstructured":"Lin, H.Y., Chuang, C.K., Lee, C.L., Chen, M.R., Sung, K.T., Lin, S.M., Hou, C.J., Niu, D.M., Chang, T.M., and Hung, C.L. (2020). Cardiac Evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses. Diagnostics, 10.","DOI":"10.3390\/diagnostics10020062"},{"key":"ref_590","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.ymgme.2020.03.005","article-title":"Cardiac rhythm abnormalities\u2013An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses","volume":"130","author":"Ayuna","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_591","doi-asserted-by":"crossref","unstructured":"Lin, H.Y., Chen, M.R., Lee, C.L., Lin, S.M., Hung, C.L., Niu, D.M., Chang, T.M., Chuang, C.K., and Lin, S.P. (2020). Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy. Diagnostics, 11.","DOI":"10.3390\/diagnostics11010016"},{"key":"ref_592","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1186\/s13023-021-01743-2","article-title":"Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II","volume":"16","author":"Lin","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_593","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1093\/icvts\/ivab171","article-title":"Surgical management of an aortic root dilatation in a patient suffering from Hunter syndrome","volume":"33","author":"Poitier","year":"2021","journal-title":"Interact. Cardiovasc. Thorac. Surg."},{"key":"ref_594","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1186\/s13023-021-01875-5","article-title":"A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: Data from the local lysosomal storage disease registry","volume":"16","author":"Racoma","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_595","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.jccase.2021.06.008","article-title":"Transcatheter aortic valve implantation for severe aortic stenosis in a patient with mucopolysaccharidosis type II (Hunter syndrome) accompanied by severe airway obstruction","volume":"25","author":"Mori","year":"2022","journal-title":"J. Cardiol. Cases"},{"key":"ref_596","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1186\/s13023-022-02396-5","article-title":"Cardiac involvement in MPS patients: Incidence and response to therapy in an Italian multicentre study","volume":"17","author":"Sestito","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_597","doi-asserted-by":"crossref","first-page":"100082","DOI":"10.1016\/j.clinsp.2022.100082","article-title":"Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II","volume":"77","author":"Stephan","year":"2022","journal-title":"Clinics"},{"key":"ref_598","doi-asserted-by":"crossref","first-page":"1103620","DOI":"10.3389\/fgene.2023.1103620","article-title":"Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China","volume":"14","author":"Zhang","year":"2023","journal-title":"Front. Genet."},{"key":"ref_599","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1080\/21678707.2017.1296761","article-title":"Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II.; Hunter Syndrome)","volume":"5","author":"Stapleton","year":"2017","journal-title":"Expert Opin. Orphan Drugs"},{"key":"ref_600","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1111\/pan.13075","article-title":"Delivery of anesthesia for children with Mucopolysaccharidosis Type III (Sanfilippo syndrome): A review of 86 anesthetics","volume":"27","author":"Cohen","year":"2017","journal-title":"Paediatr. Anaesth."},{"key":"ref_601","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1186\/s13023-018-0796-4","article-title":"Epidemiology of Sanfilippo syndrome: Results of a systematic literature review","volume":"13","author":"Zelei","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_602","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/jimd.12316","article-title":"Novel therapies for mucopolysaccharidosis type III","volume":"44","author":"Davison","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_603","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1186\/s13023-017-0717-y","article-title":"Mortality in patients with Sanfilippo syndrome","volume":"12","author":"Lavery","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_604","first-page":"1","article-title":"Cardiac disease in children and young adults with various lysosomal storage diseases: Comparison of echocardiographic and ECG changes among clinical groups","volume":"2","author":"Mueller","year":"2013","journal-title":"Int. J. Cardiol. Heart Vessel."},{"key":"ref_605","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.ymgme.2018.04.010","article-title":"Natural history of echocardiographic abnormalities in mucopolysaccharidosis III","volume":"124","author":"Wilhelm","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_606","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/jimd.12015","article-title":"Cardiac disease in mucopolysaccharidosis type III","volume":"42","author":"Nijmeijer","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_607","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1186\/s13023-019-1112-7","article-title":"Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III","volume":"14","author":"Lin","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_608","doi-asserted-by":"crossref","first-page":"107430","DOI":"10.1016\/j.carpath.2022.107430","article-title":"Sanfilippo syndrome type A: Early cardiac involvement of two patients with cardiac manifestations","volume":"60","author":"Chiu","year":"2022","journal-title":"Cardiovasc. Pathol. Off. J. Soc. Cardiovasc. Pathol."},{"key":"ref_609","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.4103\/njcp.njcp_195_22","article-title":"Tissue doppler echocardiographic evaluation of cardiac functions in children with mucopolysaccharidosis type III disease","volume":"25","author":"Altin","year":"2022","journal-title":"Niger. J. Clin. Pract."},{"key":"ref_610","first-page":"981","article-title":"Cardiac and ocular manifestations in Egyptian patients with mucopolysaccharidoses","volume":"7","author":"Shawky","year":"2001","journal-title":"East. Mediterr. Health J. Rev. Sante Mediterr. Orient. Al-Majallah Al-Sihhiyah Li-Sharq Al-Mutawassit"},{"key":"ref_611","doi-asserted-by":"crossref","first-page":"6101","DOI":"10.1073\/pnas.93.12.6101","article-title":"The molecular basis of Sanfilippo syndrome type B","volume":"93","author":"Zhao","year":"1996","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_612","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/BF00796996","article-title":"Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome)","volume":"14","author":"Muenzer","year":"1993","journal-title":"Pediatr. Cardiol."},{"key":"ref_613","doi-asserted-by":"crossref","first-page":"e4","DOI":"10.1016\/j.ijcard.2006.11.054","article-title":"Outlet type of interventricular septal defect in SanFilippo type-B syndrome","volume":"122","author":"Kourouklis","year":"2007","journal-title":"Int. J. Cardiol."},{"key":"ref_614","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/ajmg.c.30142","article-title":"Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?","volume":"145","author":"Moog","year":"2007","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_615","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.ymgme.2007.09.011","article-title":"Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands","volume":"93","author":"Ruijter","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"ref_616","doi-asserted-by":"crossref","first-page":"269","DOI":"10.2147\/TACG.S57672","article-title":"Sanfilippo syndrome: Causes, consequences, and treatments","volume":"8","author":"Fedele","year":"2015","journal-title":"Appl. Clin. Genet."},{"key":"ref_617","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/0887-8994(96)00083-5","article-title":"Sanfilippo syndrome type C: A clinicopathological autopsy study of a long-term survivor","volume":"14","author":"Kurihara","year":"1996","journal-title":"Pediatr. Neurol."},{"key":"ref_618","doi-asserted-by":"crossref","unstructured":"Kampmann, C., Abu-Tair, T., G\u00f6kce, S., Lampe, C., Reinke, J., Mengel, E., Hennermann, J.B., and Wiethoff, C.M. (2016). Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome). PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0162612"},{"key":"ref_619","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1136\/hrt.46.1.113","article-title":"Mucopolysaccharidosis type IV as a cause of mitral stenosis in an adult","volume":"46","author":"Ireland","year":"1981","journal-title":"Br. Heart J."},{"key":"ref_620","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1136\/adc.65.7.746","article-title":"Echocardiographic abnormalities in type IV mucopolysaccharidosis","volume":"65","author":"John","year":"1990","journal-title":"Arch. Dis. Child."},{"key":"ref_621","doi-asserted-by":"crossref","first-page":"E96","DOI":"10.1532\/HSF98.20071197","article-title":"Aortic valve replacement in a patient with morquio syndrome","volume":"11","author":"Nicolini","year":"2008","journal-title":"Heart Surg. Forum"},{"key":"ref_622","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1053\/j.jvca.2008.12.009","article-title":"Perioperative implications of Morquio syndrome in a 31-year-old woman undergoing aortic valve replacement","volume":"23","author":"Pagel","year":"2009","journal-title":"J. Cardiothorac. Vasc. Anesth."},{"key":"ref_623","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/jmd2.12192","article-title":"Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes","volume":"58","author":"Politei","year":"2021","journal-title":"JIMD Rep."},{"key":"ref_624","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ijcard.2011.06.097","article-title":"Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)","volume":"158","author":"Golda","year":"2012","journal-title":"Int. J. Cardiol."},{"key":"ref_625","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.gene.2019.04.050","article-title":"Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI","volume":"706","author":"Aminzadeh","year":"2019","journal-title":"Gene"},{"key":"ref_626","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1002\/ajmg.a.35905","article-title":"Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene","volume":"161","author":"Jurecka","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_627","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1136\/pgmj.68.798.287","article-title":"Mitral stenosis in the Maroteaux-Lamy syndrome: A treatable cause of dyspnoea","volume":"68","author":"Marwick","year":"1992","journal-title":"Postgrad. Med. J."},{"key":"ref_628","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1161\/01.CIR.85.1.188","article-title":"Valvular heart disease in four patients with Maroteaux-Lamy syndrome","volume":"85","author":"Tan","year":"1992","journal-title":"Circulation"},{"key":"ref_629","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1023\/A:1005447232027","article-title":"Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): Long-term follow-up","volume":"22","author":"Herskhovitz","year":"1999","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_630","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1046\/j.1460-9592.2002.01784.x","article-title":"Permanent transfemoral pacemaker implantation in a child with Maroteaux Lamy syndrome","volume":"25","author":"Dilber","year":"2002","journal-title":"Pacing Clin. Electrophysiol. PACE"},{"key":"ref_631","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.carpath.2006.11.009","article-title":"Left ventricular aneurysm in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): Clinical and pathological correlation","volume":"16","author":"Oudit","year":"2007","journal-title":"Cardiovasc. Pathol. Off. J. Soc. Cardiovasc. Pathol."},{"key":"ref_632","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1007\/s00431-008-0910-z","article-title":"Mucopolysaccharidosis VI: The Italian experience","volume":"168","author":"Scarpa","year":"2009","journal-title":"Eur. J. Pediatr."},{"key":"ref_633","doi-asserted-by":"crossref","first-page":"71","DOI":"10.3233\/PRM-2010-0104","article-title":"Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series","volume":"3","author":"Scarpa","year":"2010","journal-title":"J. Pediatr. Rehabil. Med."},{"key":"ref_634","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1016\/j.ymgme.2011.08.024","article-title":"Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype","volume":"104","author":"Jurecka","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_635","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.ymgme.2011.08.029","article-title":"Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI","volume":"104","author":"Furujo","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_636","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s10545-011-9410-9","article-title":"Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)","volume":"36","author":"Hendriksz","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_637","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/s10545-012-9481-2","article-title":"Enzyme replacement therapy for mucopolysaccharidosis VI: Long-term cardiac effects of galsulfase (Naglazyme\u00ae) therapy","volume":"36","author":"Braunlin","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_638","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/8904_2012_141","article-title":"The transforming growth factor-Beta signaling pathway involvement in cardiovascular lesions in mucopolysaccharidosis-I","volume":"7","author":"Yano","year":"2013","journal-title":"JIMD Rep."},{"key":"ref_639","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.ymgme.2013.02.013","article-title":"Up to five years experience with 11 mucopolysaccharidosis type VI patients","volume":"109","author":"Brands","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_640","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ymgme.2013.02.014","article-title":"Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI","volume":"109","author":"Horovitz","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_641","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1017\/S1047951113000152","article-title":"Advantages of early replacement therapy for mucopolysaccharidosis type VI: Echocardiographic follow-up of siblings","volume":"24","author":"Leal","year":"2014","journal-title":"Cardiol. Young"},{"key":"ref_642","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s10545-013-9649-4","article-title":"Mucopolysaccharidosis VI: Cardiac involvement and the impact of enzyme replacement therapy","volume":"37","author":"Kampmann","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_643","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1002\/ajmg.a.36584","article-title":"Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)\u201410-year follow-up of patients who previously participated in an MPS VI Survey Study","volume":"164","author":"Giugliani","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_644","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.ymgme.2015.03.005","article-title":"Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)","volume":"115","author":"Choy","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_645","doi-asserted-by":"crossref","unstructured":"Franco, J.F., Soares, D.C., Torres, L.C., Leal, G.N., Cunha, M.T., Honjo, R.S., Bertola, D.R., and Kim, C.A. (2016). Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: Results of a long-term follow-up of Brazilian siblings. Genet. Mol. Res. GMR, 15.","DOI":"10.4238\/gmr.15017850"},{"key":"ref_646","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.ymgmr.2016.04.003","article-title":"Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series","volume":"7","author":"Lin","year":"2016","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_647","doi-asserted-by":"crossref","first-page":"e23","DOI":"10.1016\/j.athoracsur.2015.11.062","article-title":"Aortic and Mitral Valve Involvement in Maroteaux-Lamy Syndrome VI: Surgical Implications in the Enzyme Replacement Therapy Era","volume":"102","author":"Torre","year":"2016","journal-title":"Ann. Thorac. Surg."},{"key":"ref_648","doi-asserted-by":"crossref","first-page":"2954","DOI":"10.1002\/ajmg.a.38459","article-title":"Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey","volume":"173","author":"Dursun","year":"2017","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_649","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ymgmr.2017.08.007","article-title":"Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up","volume":"13","author":"Furujo","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_650","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1177\/0218492316675533","article-title":"Maroteaux-Lamy syndrome: A rare and challenging case of mitral valve replacement","volume":"26","author":"Bell","year":"2018","journal-title":"Asian Cardiovasc. Thorac. Ann."},{"key":"ref_651","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1002\/mgg3.471","article-title":"The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses","volume":"6","author":"Lin","year":"2018","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_652","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/jimd.12079","article-title":"Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program","volume":"42","author":"Harmatz","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_653","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.ymgme.2019.06.008","article-title":"Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program","volume":"127","author":"Lampe","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_654","doi-asserted-by":"crossref","unstructured":"Honjo, R.S., Vaca, E.C.N., Leal, G.N., Abellan, D.M., Ikari, N.M., Jatene, M.B., Martins, A.M., and Kim, C.A. (2020). Mucopolysaccharidosis type VI: Case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation. BMC Med. Genet., 21.","DOI":"10.1186\/s12881-020-0972-y"},{"key":"ref_655","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ymgme.2021.02.006","article-title":"Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study","volume":"133","author":"Horovitz","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_656","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.ymgme.2021.03.006","article-title":"Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy","volume":"133","author":"Garcia","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_657","doi-asserted-by":"crossref","first-page":"110269","DOI":"10.1016\/j.jclinane.2021.110269","article-title":"Transversus thoracis muscle plane blocks for a patient with Maroteaux-Lamy syndrome undergoing mitral valve replacement","volume":"72","author":"Zauk","year":"2021","journal-title":"J. Clin. Anesth."},{"key":"ref_658","doi-asserted-by":"crossref","first-page":"110296","DOI":"10.1016\/j.jclinane.2021.110296","article-title":"Preoperative cardiac POCUS for urgent surgery in a patient with Maroteaux-Lamy syndrome","volume":"72","author":"Salik","year":"2021","journal-title":"J. Clin. Anesth."},{"key":"ref_659","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s13019-021-01530-x","article-title":"Double valve replacement in a patient with Maroteaux\u2013Lamy syndrome as an ultimate team challenge","volume":"16","author":"Demis","year":"2021","journal-title":"J. Cardiothorac. Surg."},{"key":"ref_660","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1186\/s13023-021-02060-4","article-title":"Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: A case series","volume":"16","author":"Okur","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_661","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/jimd.12467","article-title":"Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil","volume":"45","author":"Guffon","year":"2022","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_662","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1186\/s13256-021-03240-3","article-title":"Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): A case report","volume":"16","author":"Andrade","year":"2022","journal-title":"J. Med. Case Rep."},{"key":"ref_663","doi-asserted-by":"crossref","first-page":"63","DOI":"10.14715\/cmb\/2022.68.7.11","article-title":"Clinical, Endocrine and Genetic spectrums of Mucopolysaccharidoses type VI in Duhok city, Kurdistan Region, Iraq","volume":"68","author":"Haleem","year":"2022","journal-title":"Cell. Mol. Biol."},{"key":"ref_664","doi-asserted-by":"crossref","unstructured":"Parini, R., and Deodato, F. (2020). Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21082975"},{"key":"ref_665","first-page":"159","article-title":"Mucopolysaccharidosis type VII: A powerful experimental system and therapeutic challenge","volume":"12","author":"Sands","year":"2014","journal-title":"Pediatr. Endocrinol. Rev. PER"},{"key":"ref_666","first-page":"132","article-title":"Mucopolysaccharidosis VII: Postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency","volume":"7","author":"Vogler","year":"1994","journal-title":"Mod. Pathol. Off. J. United States Can. Acad. Pathol. Inc"},{"key":"ref_667","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1097\/00000542-200110000-00041","article-title":"Complete heart block during anesthetic management in a patient with mucopolysaccharidosis type VII","volume":"95","author":"Toda","year":"2001","journal-title":"Anesthesiology"},{"key":"ref_668","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.ymgme.2014.10.017","article-title":"First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient","volume":"114","author":"Fox","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_669","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.carpath.2015.06.001","article-title":"Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)","volume":"24","author":"Gniadek","year":"2015","journal-title":"Cardiovasc. Pathol. Off. J. Soc. Cardiovasc. Pathol."},{"key":"ref_670","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1136\/jmedgenet-2015-103322","article-title":"Clinical course of sly syndrome (mucopolysaccharidosis type VII)","volume":"53","author":"Steiner","year":"2016","journal-title":"J. Med. Genet."},{"key":"ref_671","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/8904_2017_43","article-title":"Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis","volume":"39","author":"Lew","year":"2018","journal-title":"JIMD Rep."},{"key":"ref_672","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/ajmg.a.61034","article-title":"Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII","volume":"179","author":"Kantaputra","year":"2019","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_673","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1515\/jpem-2019-0293","article-title":"The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis","volume":"32","author":"Aypar","year":"2019","journal-title":"J. Pediatr. Endocrinol. Metab. JPEM"},{"key":"ref_674","doi-asserted-by":"crossref","first-page":"107297","DOI":"10.1016\/j.carpath.2020.107297","article-title":"Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient","volume":"50","author":"Marek","year":"2021","journal-title":"Cardiovasc. Pathol. Off. J. Soc. Cardiovasc. Pathol."},{"key":"ref_675","doi-asserted-by":"crossref","first-page":"100922","DOI":"10.1016\/j.ymgmr.2022.100922","article-title":"MPS VII\u2013Extending the classical phenotype","volume":"33","author":"Oldham","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_676","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.2147\/TCRM.S351300","article-title":"Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)","volume":"18","author":"Poswar","year":"2022","journal-title":"Ther. Clin. Risk Manag."},{"key":"ref_677","doi-asserted-by":"crossref","first-page":"3433","DOI":"10.1042\/BCJ20200546","article-title":"Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate","volume":"477","author":"Trabszo","year":"2020","journal-title":"Biochem. J."},{"key":"ref_678","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1136\/jmedgenet-2021-108061","article-title":"Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency","volume":"59","author":"Verheyen","year":"2022","journal-title":"J. Med. Genet."},{"key":"ref_679","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1161\/01.CIR.99.4.578","article-title":"Glucose for the heart","volume":"99","author":"Depre","year":"1999","journal-title":"Circulation"},{"key":"ref_680","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1093\/cvr\/cvr071","article-title":"Glucose metabolism and cardiac hypertrophy","volume":"90","author":"Kolwicz","year":"2011","journal-title":"Cardiovasc. 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