{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T12:28:26Z","timestamp":1780662506776,"version":"3.54.1"},"reference-count":44,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","pediatric.theclinics.com","theclinics.com","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Clinics of North America"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1016\/j.pcl.2017.11.012","type":"journal-article","created":{"date-parts":[[2018,3,2]],"date-time":"2018-03-02T02:24:22Z","timestamp":1519957462000},"page":"375-388","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["Complex Phenotypes in Inborn Errors of Metabolism"],"prefix":"10.1016","volume":"65","author":[{"given":"Thatjana","family":"Gardeitchik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Wyckmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.pcl.2017.11.012_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mcn.2012.08.013","article-title":"Mitochondrial diseases: translation matters","volume":"55","author":"Pearce","year":"2013","journal-title":"Mol Cell Neurosci"},{"key":"10.1016\/j.pcl.2017.11.012_bib2","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1111\/j.1749-6632.2010.05840.x","article-title":"Congenital disorders of glycosylation","volume":"1214","author":"Jaeken","year":"2010","journal-title":"Ann N Y Acad Sci"},{"issue":"1","key":"10.1016\/j.pcl.2017.11.012_bib3","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.ymgme.2013.02.006","article-title":"Thrombotic complications in patients with PMM2-CDG","volume":"109","author":"Linssen","year":"2013","journal-title":"Mol Genet Metab"},{"issue":"10","key":"10.1016\/j.pcl.2017.11.012_bib4","doi-asserted-by":"crossref","first-page":"6936","DOI":"10.1074\/jbc.R112.429274","article-title":"Understanding human glycosylation disorders: biochemistry leads the charge","volume":"288","author":"Freeze","year":"2013","journal-title":"J\u00a0Biol Chem"},{"issue":"2\u20133","key":"10.1016\/j.pcl.2017.11.012_bib5","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/0009-8981(84)90059-7","article-title":"Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome","volume":"144","author":"Jaeken","year":"1984","journal-title":"Clin Chim Acta"},{"issue":"4","key":"10.1016\/j.pcl.2017.11.012_bib6","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1007\/s10545-014-9720-9","article-title":"Congenital disorders of glycosylation: new defects and still counting","volume":"37","author":"Scott","year":"2014","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"5","key":"10.1016\/j.pcl.2017.11.012_bib7","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1007\/BF03256251","article-title":"Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms","volume":"11","author":"Babovic-Vuksanovic","year":"2007","journal-title":"Mol Diagn Ther"},{"issue":"4","key":"10.1016\/j.pcl.2017.11.012_bib8","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1007\/s10545-011-9370-0","article-title":"How to find and diagnose a CDG due to defective N-glycosylation","volume":"34","author":"Lefeber","year":"2011","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"6","key":"10.1016\/j.pcl.2017.11.012_bib9","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.trsl.2015.07.005","article-title":"High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation","volume":"166","author":"van Scherpenzeel","year":"2015","journal-title":"Transl Res"},{"key":"10.1016\/j.pcl.2017.11.012_bib10","article-title":"CDG what's new","author":"Jaeken","year":"2017","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.pcl.2017.11.012_bib11","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1146\/annurev-neuro-071714-034019","article-title":"Neurological aspects of human glycosylation disorders","volume":"38","author":"Freeze","year":"2015","journal-title":"Annu Rev Neurosci"},{"issue":"11","key":"10.1016\/j.pcl.2017.11.012_bib12","doi-asserted-by":"crossref","first-page":"3210","DOI":"10.1093\/brain\/awq261","article-title":"A\u00a0novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism","volume":"133","author":"Morava","year":"2010","journal-title":"Brain"},{"issue":"12","key":"10.1016\/j.pcl.2017.11.012_bib13","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1056\/NEJMra1012478","article-title":"Monogenic mitochondrial disorders","volume":"366","author":"Koopman","year":"2012","journal-title":"N\u00a0Engl J Med"},{"issue":"10","key":"10.1016\/j.pcl.2017.11.012_bib14","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1212\/01.wnl.0000244435.27645.54","article-title":"Mitochondrial disease criteria: diagnostic applications in children","volume":"67","author":"Morava","year":"2006","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.pcl.2017.11.012_bib15","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s10545-014-9769-5","article-title":"Disease severity and clinical outcome in phosphosglucomutase deficiency","volume":"38","author":"Morava","year":"2015","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"3","key":"10.1016\/j.pcl.2017.11.012_bib16","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/s00431-006-0234-9","article-title":"Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations","volume":"166","author":"de Vries","year":"2007","journal-title":"Eur J Pediatr"},{"issue":"3","key":"10.1016\/j.pcl.2017.11.012_bib17","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.ymgme.2013.08.009","article-title":"Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa","volume":"110","author":"Dimopoulou","year":"2013","journal-title":"Mol Genet Metab"},{"issue":"4","key":"10.1016\/j.pcl.2017.11.012_bib18","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ymgme.2014.05.003","article-title":"Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1","volume":"112","author":"Fischer","year":"2014","journal-title":"Mol Genet Metab"},{"issue":"12","key":"10.1016\/j.pcl.2017.11.012_bib19","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.1093\/hmg\/ddp148","article-title":"Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival","volume":"18","author":"Hucthagowder","year":"2009","journal-title":"Hum Mol Genet"},{"issue":"2","key":"10.1016\/j.pcl.2017.11.012_bib20","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":"Van Damme","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.pcl.2017.11.012_bib21","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1007\/s10545-016-9945-x","article-title":"ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies","volume":"39","author":"Morava","year":"2016","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"4","key":"10.1016\/j.pcl.2017.11.012_bib22","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1016\/j.jpeds.2013.05.036","article-title":"Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes","volume":"163","author":"Lee","year":"2013","journal-title":"J\u00a0Pediatr"},{"issue":"2","key":"10.1016\/j.pcl.2017.11.012_bib23","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/s10545-016-0012-4","article-title":"Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature","volume":"40","author":"Marques-da-Silva","year":"2017","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"2","key":"10.1016\/j.pcl.2017.11.012_bib24","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.ajhg.2015.12.011","article-title":"TMEM199 deficiency is a disorder of golgi homeostasis characterized by elevated aminotransferases, alkaline phosphatase, and cholesterol and abnormal glycosylation","volume":"98","author":"Jansen","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.pcl.2017.11.012_bib25","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ajhg.2015.12.010","article-title":"CCDC115 Deficiency causes a disorder of golgi homeostasis with abnormal protein glycosylation","volume":"98","author":"Jansen","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2017.11.012_bib26","doi-asserted-by":"crossref","first-page":"11600","DOI":"10.1038\/ncomms11600","article-title":"ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation","volume":"7","author":"Jansen","year":"2016","journal-title":"Nat Commun"},{"issue":"1","key":"10.1016\/j.pcl.2017.11.012_bib27","doi-asserted-by":"crossref","first-page":"e279","DOI":"10.1542\/peds.2013-2732","article-title":"Successful liver transplantation and long-term follow-up in a patient with MPI-CDG","volume":"134","author":"Janssen","year":"2014","journal-title":"Pediatrics"},{"issue":"6","key":"10.1016\/j.pcl.2017.11.012_bib28","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\u00a0Engl J Med"},{"key":"10.1016\/j.pcl.2017.11.012_bib29","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\u00a0Pediatr"},{"issue":"2","key":"10.1016\/j.pcl.2017.11.012_bib30","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"},{"issue":"12","key":"10.1016\/j.pcl.2017.11.012_bib31","doi-asserted-by":"crossref","first-page":"e1002427","DOI":"10.1371\/journal.pgen.1002427","article-title":"Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation","volume":"7","author":"Lefeber","year":"2011","journal-title":"PLoS Genet"},{"issue":"4","key":"10.1016\/j.pcl.2017.11.012_bib32","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1002\/ajmg.c.31345","article-title":"Heritable disorders in the metabolism of the dolichols: a bridge from sterol biosynthesis to molecular glycosylation","volume":"160c","author":"Wolfe","year":"2012","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.pcl.2017.11.012_bib33","doi-asserted-by":"crossref","first-page":"25","DOI":"10.3389\/fcvm.2016.00025","article-title":"Mitochondrial cardiomyopathies","volume":"3","author":"El-Hattab","year":"2016","journal-title":"Front Cardiovasc Med"},{"issue":"3","key":"10.1016\/j.pcl.2017.11.012_bib34","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s10545-014-9774-8","article-title":"TMEM70 deficiency: long-term outcome of 48 patients","volume":"38","author":"Magner","year":"2015","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"Pt 1","key":"10.1016\/j.pcl.2017.11.012_bib35","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1093\/brain\/awq287","article-title":"Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia","volume":"134","author":"Namavar","year":"2011","journal-title":"Brain"},{"issue":"4","key":"10.1016\/j.pcl.2017.11.012_bib36","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1007\/s10545-011-9301-0","article-title":"From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases","volume":"34","author":"Cantagrel","year":"2011","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"4","key":"10.1016\/j.pcl.2017.11.012_bib37","doi-asserted-by":"crossref","first-page":"e1034","DOI":"10.1542\/peds.2011-2711","article-title":"Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations","volume":"130","author":"Morava","year":"2012","journal-title":"Pediatrics"},{"issue":"7","key":"10.1016\/j.pcl.2017.11.012_bib38","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1093\/hmg\/ddl476","article-title":"A\u00a0new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation","volume":"16","author":"Foulquier","year":"2007","journal-title":"Hum Mol Genet"},{"issue":"6","key":"10.1016\/j.pcl.2017.11.012_bib39","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.ajhg.2015.11.003","article-title":"SLC39A8 deficiency: a disorder of manganese transport and glycosylation","volume":"97","author":"Park","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.pcl.2017.11.012_bib40","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s10545-016-0010-6","article-title":"A\u00a0SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders","volume":"40","author":"Riley","year":"2017","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"3","key":"10.1016\/j.pcl.2017.11.012_bib41","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1002\/ajmg.a.35702","article-title":"Perinatal and early infantile symptoms in congenital disorders of glycosylation","volume":"161a","author":"Funke","year":"2013","journal-title":"Am J Med Genet A"},{"issue":"10","key":"10.1016\/j.pcl.2017.11.012_bib42","first-page":"1356","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\u00a0Neurol"},{"issue":"9","key":"10.1016\/j.pcl.2017.11.012_bib43","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/j.bbadis.2008.11.012","article-title":"The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib","volume":"1792","author":"de Lonlay","year":"2009","journal-title":"Biochim Biophys Acta"},{"issue":"4","key":"10.1016\/j.pcl.2017.11.012_bib44","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ymgme.2014.06.002","article-title":"Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG","volume":"112","author":"Morava","year":"2014","journal-title":"Mol Genet Metab"}],"container-title":["Pediatric Clinics of North America"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0031395517301876?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0031395517301876?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,8,23]],"date-time":"2018-08-23T14:20:15Z","timestamp":1535034015000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0031395517301876"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":44,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["S0031395517301876"],"URL":"https:\/\/doi.org\/10.1016\/j.pcl.2017.11.012","relation":{},"ISSN":["0031-3955"],"issn-type":[{"value":"0031-3955","type":"print"}],"subject":[],"published":{"date-parts":[[2018,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Complex Phenotypes in Inborn Errors of Metabolism","name":"articletitle","label":"Article Title"},{"value":"Pediatric Clinics of North America","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pcl.2017.11.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}