{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T18:50:21Z","timestamp":1792263021059,"version":"4.4.0"},"reference-count":211,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids"],"published-print":{"date-parts":[[2014,5]]},"DOI":"10.1016\/j.bbalip.2013.11.004","type":"journal-article","created":{"date-parts":[[2013,11,13]],"date-time":"2013-11-13T06:30:18Z","timestamp":1384324218000},"page":"811-825","source":"Crossref","is-referenced-by-count":109,"title":["Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses"],"prefix":"10.1016","volume":"1841","author":[{"given":"Maria J.","family":"Ferraz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter W.","family":"Kallemeijn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Mirzaian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Herrera Moro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Marques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Wisse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolf G.","family":"Boot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianne I.","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.S.","family":"Overkleeft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.M.","family":"Aerts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"47","key":"10.1016\/j.bbalip.2013.11.004_bb0005","doi-asserted-by":"crossref","first-page":"8848","DOI":"10.1002\/anie.200902620","article-title":"Glycosphingolipids\u2014nature, function, and pharmacological modulation","volume":"48","author":"Wennekes","year":"2009","journal-title":"Angew. Chem. Int. Ed. Engl."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0010","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/j.bbamcr.2008.12.001","article-title":"Lysosomal disorders: from storage to cellular damage","volume":"1793","author":"Ballabio","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"issue":"2\u20133","key":"10.1016\/j.bbalip.2013.11.004_bb0015","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/0925-4439(94)00075-2","article-title":"Lysosomal storage diseases","volume":"1270","author":"Gieselmann","year":"1995","journal-title":"Biochim. Biophys. Acta"},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0020","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/path.3021","article-title":"The cellular pathology of lysosomal diseases","volume":"226","author":"Cox","year":"2012","journal-title":"J. Pathol."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0025","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3635","article-title":"Gaucher disease","author":"Beutler","year":"2001"},{"issue":"1\u20132","key":"10.1016\/j.bbalip.2013.11.004_bb0030","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in The Netherlands","volume":"105","author":"Poorthuis","year":"1999","journal-title":"Hum. Genet."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0035","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/s10545-010-9093-7","article-title":"The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations","volume":"33","author":"Poupetov\u00e1","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0040","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/sj.ejhg.5201044","article-title":"Prevalence of lysosomal storage diseases in Portugal","volume":"12","author":"Pinto","year":"2004","journal-title":"Eur. J. Hum. Genet."},{"issue":"9813","key":"10.1016\/j.bbalip.2013.11.004_bb0045","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0140-6736(11)61266-X","article-title":"Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria","volume":"379","author":"Mechtler","year":"2012","journal-title":"Lancet"},{"key":"10.1016\/j.bbalip.2013.11.004_bb0050","doi-asserted-by":"crossref","first-page":"17c","DOI":"10.1042\/bj0970017C","article-title":"A deficiency of glucocerebrosidase in Gaucher's disease","volume":"97","author":"Patrick","year":"1965","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0055","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1172\/JCI105417","article-title":"Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease","volume":"45","author":"Brady","year":"1966","journal-title":"J. Clin. Invest."},{"issue":"4\u20135","key":"10.1016\/j.bbalip.2013.11.004_bb0060","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1080\/15227950500405296","article-title":"Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum","volume":"24","author":"Eblan","year":"2005","journal-title":"Fetal Pediatr. Pathol."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0065","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ymgme.2004.08.015","article-title":"Gaucher disease: complexity in a \u201csimple\u201d disorder","volume":"83","author":"Sidransky","year":"2004","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0070","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/s10545-008-0832-y","article-title":"\u2018Non-neuronopathic\u2019 Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature","volume":"31","author":"Biegstraaten","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0075","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1111\/j.1432-1033.1985.tb09058.x","article-title":"The occurrence of two immunologically distinguishable beta-glucocerebrosidases in human spleen","volume":"150","author":"Aerts","year":"1985","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0080","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/0925-4439(91)90066-I","article-title":"Clinical genotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts","volume":"1096","author":"Van Weely","year":"1991","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbalip.2013.11.004_bb0085","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/S0074-7696(06)52001-7","article-title":"The biology of the Gaucher cell: the cradle of human chitinases","volume":"252","author":"Bussink","year":"2006","journal-title":"Int. Rev. Cytol."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0090","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1002\/humu.20676","article-title":"Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)","volume":"29","author":"Hruska","year":"2008","journal-title":"Hum. Mutat."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0095","doi-asserted-by":"crossref","first-page":"3661","DOI":"10.1016\/S0021-9258(19)67845-2","article-title":"Characterization of human glucocerebrosidase from different mutant alleles","volume":"266","author":"Ohashi","year":"1991","journal-title":"J. Biol. Chem."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb1055","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1093\/ajcp\/93.6.788","article-title":"Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder","volume":"93","author":"Zimran","year":"1990","journal-title":"Am. J. Clin. Pathol."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0105","first-page":"855","article-title":"High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews","volume":"49","author":"Zimran","year":"1991","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0110","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1089\/gte.1997.1.5","article-title":"Gaucher disease: gene frequencies and genotype\/phenotype correlations","volume":"1","author":"Grabowski","year":"1997","journal-title":"Genet. Test."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0115","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1093\/qjmed\/hch036","article-title":"Twin pairs showing discordance of phenotype in adult Gaucher's disease","volume":"97","author":"Lachmann","year":"2004","journal-title":"QJM"},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0120","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.bcmd.2010.10.007","article-title":"A monozygotic twin pair with highly discordant Gaucher phenotypes","volume":"46","author":"Biegstraaten","year":"2011","journal-title":"Blood Cells Mol. Dis."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0125","doi-asserted-by":"crossref","first-page":"e37","DOI":"10.1136\/jmg.2004.028019","article-title":"Divergent phenotypes in Gaucher disease implicate the role of modifiers","volume":"42","author":"Goker-Alpan","year":"2005","journal-title":"J. Med. Genet."},{"issue":"20","key":"10.1016\/j.bbalip.2013.11.004_bb0130","doi-asserted-by":"crossref","first-page":"4731","DOI":"10.1182\/blood-2011-10-386862","article-title":"Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease\/hematologic malignancy phenotype by individual genome analysis","volume":"119","author":"Lo","year":"2012","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0135","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/ajh.23118","article-title":"Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation","volume":"87","author":"Zhang","year":"2012","journal-title":"Am. J. Hematol."},{"issue":"24","key":"10.1016\/j.bbalip.2013.11.004_bb0140","doi-asserted-by":"crossref","first-page":"3798","DOI":"10.1002\/elps.201200472","article-title":"CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches","volume":"33","author":"El Haddad","year":"2009","journal-title":"Electrophoresis"},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0145","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/0304-4165(88)90030-X","article-title":"Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation","volume":"964","author":"Aerts","year":"1988","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbalip.2013.11.004_bb0150","doi-asserted-by":"crossref","first-page":"4862","DOI":"10.1016\/S0021-9258(19)67728-8","article-title":"Mannose-6-phosphate independent membrane association of cathepsin D, glucocerebrosidase and sphingolipid activator protein in HepG2 cells","volume":"266","author":"Rijnboutt","year":"1991","journal-title":"J. Biol. Chem."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0155","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.cell.2007.10.018","article-title":"LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase","volume":"131","author":"Reczek","year":"2007","journal-title":"Cell"},{"issue":"9","key":"10.1016\/j.bbalip.2013.11.004_bb0160","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/nrm2745","article-title":"Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function","volume":"10","author":"Saftig","year":"2009","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0165","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.ajhg.2007.12.019","article-title":"Array-based gene discovery with three unrelated subjects shows SCARB2\/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis","volume":"82","author":"Berkovic","year":"2008","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0170","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1002\/ana.21765","article-title":"SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure","volume":"66","author":"Dibbens","year":"2009","journal-title":"Ann. Neurol."},{"issue":"11","key":"10.1016\/j.bbalip.2013.11.004_bb0175","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1002\/humu.21566","article-title":"A mutation in SCARB2 is a modifier in Gaucher disease","volume":"32","author":"Velayati","year":"2011","journal-title":"Hum. Mutat."},{"issue":"14","key":"10.1016\/j.bbalip.2013.11.004_bb0180","doi-asserted-by":"crossref","first-page":"2238","DOI":"10.1093\/hmg\/ddn124","article-title":"A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome","volume":"17","author":"Balreira","year":"2008","journal-title":"Hum. Mol. Genet."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_rf0180","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1111\/j.1399-0004.2007.00899.x","article-title":"Non-neuronopathic Gaucher disease due to saposin C deficiency","volume":"72","author":"Tylki-Szyma\u0144ska","year":"2007","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbalip.2013.11.004_rf1010","doi-asserted-by":"crossref","DOI":"10.1002\/humu.22381","article-title":"Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity","author":"Alfonso","year":"2013","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0195","doi-asserted-by":"crossref","first-page":"471","DOI":"10.3109\/01913128809032232","article-title":"An immunoelectron microscopic study of glucocerebrosidase in type 1 Gaucher's disease spleen","volume":"12","author":"Willemsen","year":"1988","journal-title":"Ultrastruct. Pathol."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0200","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1309\/BG5VA8JRDQH1M7HN","article-title":"Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages","volume":"122","author":"Boven","year":"2004","journal-title":"Am. J. Clin. Pathol."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0205","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/S0950-3536(97)80034-0","article-title":"Plasma and metabolic abnormalities in Gaucher's disease","volume":"10","author":"Aerts","year":"1997","journal-title":"Baillieres Clin. Haematol."},{"issue":"447","key":"10.1016\/j.bbalip.2013.11.004_bb0210","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1080\/08035320510028085","article-title":"Biomarkers in lysosomal storage diseases: a review","volume":"94","author":"Cox","year":"2005","journal-title":"Acta Paediatr. Suppl."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0215","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/S0925-4439(96)00056-7","article-title":"Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease","volume":"1317","author":"Michelakakis","year":"1996","journal-title":"Biochim. Biophys. Acta"},{"issue":"7","key":"10.1016\/j.bbalip.2013.11.004_bb0220","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1016\/j.bbadis.2007.04.002","article-title":"Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease","volume":"1772","author":"van Breemen","year":"2007","journal-title":"Biochim. Biophys. Acta"},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0225","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.bcmd.2010.10.010","article-title":"Potential biomarkers of osteonecrosis in Gaucher disease","volume":"46","author":"Pavlova","year":"2011","journal-title":"Blood Cells Mol. Dis."},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0230","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1006\/bcmd.1997.0137","article-title":"Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease","volume":"23","author":"Hollak","year":"1997","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0235","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1046\/j.0902-4441.2003.00193.x","article-title":"Soluble haemoglobin scavenger receptor CD163: a macrophage specific marker in Gaucher disease","volume":"72","author":"Moller","year":"2004","journal-title":"Eur. J. Haematol."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0240","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.bcmd.2004.08.023","article-title":"Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model","volume":"34","author":"Rogowski","year":"2005","journal-title":"Blood Cells Mol. Dis."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0245","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1046\/j.1365-2141.1997.d01-2076.x","article-title":"Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy","volume":"96","author":"Hollak","year":"1997","journal-title":"Br. J. Haematol."},{"issue":"1433","key":"10.1016\/j.bbalip.2013.11.004_bb0250","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1098\/rstb.2003.1269","article-title":"Enzyme replacement therapy: conception, chaos and culmination","volume":"358","author":"Brady","year":"2003","journal-title":"Philos. Trans. R. Soc. Lond. B Biol. Sci."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0255","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1073\/pnas.87.5.1913","article-title":"Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease","volume":"87","author":"Barton","year":"1990","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0260","doi-asserted-by":"crossref","first-page":"961","DOI":"10.2214\/ajr.179.4.1790961","article-title":"Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter","volume":"179","author":"Maas","year":"2002","journal-title":"AJR Am. J. Roentgenol."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb1060","first-page":"830","article-title":"Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis","volume":"108","author":"de Fost","year":"2006"},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb1065","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1006\/bcmd.2002.0511","article-title":"Correlation of bone marrow response with hematological, biochemical, and visceral responses to enzyme replacement therapy of nonneuronopathic (type 1) Gaucher disease in 30 adult patients","volume":"28","author":"Poll","year":"2002","journal-title":"Blood Cells Mol. Dis."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0275","doi-asserted-by":"crossref","first-page":"33","DOI":"10.7326\/0003-4819-122-1-199501010-00005","article-title":"Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources","volume":"122","author":"Grabowski","year":"1995","journal-title":"Ann. Intern. Med."},{"issue":"23","key":"10.1016\/j.bbalip.2013.11.004_bb0280","doi-asserted-by":"crossref","first-page":"4651","DOI":"10.1182\/blood-2010-02-268649","article-title":"Phase 1\/2 and extension study of Velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience","volume":"115","author":"Zimran","year":"2010","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0285","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.bcmd.2011.04.005","article-title":"Significant and continuous improvement in bone mineral density among type 1 Gaucher disease patients treated with velaglucerase alfa: 69-month experience, including dose reduction","volume":"47","author":"Elstein","year":"2011","journal-title":"Blood Cells Mol. Dis."},{"issue":"11","key":"10.1016\/j.bbalip.2013.11.004_bb0290","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1038\/nrd3311","article-title":"Velaglucerase alfa","volume":"9","author":"Aerts","year":"2010","journal-title":"Nat. Rev. Drug Discov."},{"issue":"22","key":"10.1016\/j.bbalip.2013.11.004_bb0295","doi-asserted-by":"crossref","first-page":"5767","DOI":"10.1182\/blood-2011-07-366955","article-title":"Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease","volume":"118","author":"Zimran","year":"2011","journal-title":"Blood"},{"issue":"7","key":"10.1016\/j.bbalip.2013.11.004_bb1070","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1001\/jama.1996.03530310054033","article-title":"Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease","volume":"275","author":"Gaucher disease","year":"1996","journal-title":"JAMA"},{"issue":"8963","key":"10.1016\/j.bbalip.2013.11.004_bb0305","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1016\/S0140-6736(95)91037-9","article-title":"Individualised low-dose alglucerase therapy for type 1 Gaucher's disease","volume":"345","author":"Hollak","year":"1995","journal-title":"Lancet"},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0310","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1007\/s10545-011-9308-6","article-title":"Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies","volume":"34","author":"Aerts","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"issue":"447","key":"10.1016\/j.bbalip.2013.11.004_bb0315","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1080\/08035320510028094","article-title":"Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases","volume":"94","author":"Aerts","year":"2005","journal-title":"Acta Paediatr. Suppl."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0320","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1172\/JCI117084","article-title":"Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease","volume":"93","author":"Hollak","year":"1994","journal-title":"J. Clin. Invest."},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0325","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1534\/genetics.107.075846","article-title":"Evolution of mammalian chitinase(-like) members of family 18 glycosyl hydrolases","volume":"177","author":"Bussink","year":"2007","journal-title":"Genetics"},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0330","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1007\/BF02436762","article-title":"Elevated plasma chitotriosidase activity in various lysosomal storage disorders","volume":"18","author":"Guo","year":"1995","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0335","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10545-005-4416-9","article-title":"Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann\u2013Pick disease","volume":"28","author":"Brinkman","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"issue":"11","key":"10.1016\/j.bbalip.2013.11.004_bb0340","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1093\/intimm\/dxh328","article-title":"Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity","volume":"17","author":"van Eijk","year":"2005","journal-title":"Int. Immunol."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0345","doi-asserted-by":"crossref","first-page":"2198","DOI":"10.1074\/jbc.270.5.2198","article-title":"Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins","volume":"270","author":"Renkema","year":"1995","journal-title":"J. Biol. Chem."},{"issue":"44","key":"10.1016\/j.bbalip.2013.11.004_bb0350","doi-asserted-by":"crossref","first-page":"26252","DOI":"10.1074\/jbc.270.44.26252","article-title":"Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages","volume":"270","author":"Boot","year":"1995","journal-title":"J. Biol. Chem."},{"issue":"28","key":"10.1016\/j.bbalip.2013.11.004_bb0355","doi-asserted-by":"crossref","first-page":"25537","DOI":"10.1074\/jbc.M201636200","article-title":"Structure of human chitotriosidase. Implications for specific inhibitor design and function of mammalian chitinase-like lectins","volume":"277","author":"Fusetti","year":"2002","journal-title":"J. Biol. Chem."},{"issue":"22","key":"10.1016\/j.bbalip.2013.11.004_bb0360","doi-asserted-by":"crossref","first-page":"20110","DOI":"10.1074\/jbc.M300362200","article-title":"Crystal structures of allosamidin derivatives in complex with human macrophage chitinase","volume":"278","author":"Rao","year":"2003","journal-title":"J. Biol. Chem."},{"issue":"42","key":"10.1016\/j.bbalip.2013.11.004_bb1075","doi-asserted-by":"crossref","first-page":"40911","DOI":"10.1074\/jbc.M301804200","article-title":"Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase","volume":"278","author":"Aguilera","year":"2003","journal-title":"J. Biol. Chem."},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0370","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.cca.2007.02.042","article-title":"Monitoring of Gaucher patients with a novel chitotriosidase assay","volume":"381","author":"Schoonhoven","year":"2007","journal-title":"Clin. Chim. Acta"},{"issue":"19","key":"10.1016\/j.bbalip.2013.11.004_bb1080","doi-asserted-by":"crossref","first-page":"5678","DOI":"10.1111\/j.1742-4658.2009.07259.x","article-title":"Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates","volume":"276","author":"Bussink","year":"2009","journal-title":"FEBS J."},{"issue":"40","key":"10.1016\/j.bbalip.2013.11.004_bb0380","doi-asserted-by":"crossref","first-page":"25680","DOI":"10.1074\/jbc.273.40.25680","article-title":"The human chitotriosidase gene. Nature of inherited enzyme deficiency","volume":"273","author":"Boot","year":"1998","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0385","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1182\/blood-2003-05-1612","article-title":"Marked elevation of the chemokine CCL18\/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention","volume":"103","author":"Boot","year":"2004","journal-title":"Blood"},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0390","doi-asserted-by":"crossref","first-page":"1969","DOI":"10.1182\/blood.V96.5.1969","article-title":"Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K","volume":"96","author":"Moran","year":"2000","journal-title":"Blood"},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0395","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.bcmd.2005.05.005","article-title":"Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease","volume":"35","author":"Deegan","year":"2005","journal-title":"Blood Cells Mol. Dis."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb1085","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s10545-008-0779-z","article-title":"Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring","volume":"31","author":"Cox","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0405","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1074\/mcp.M600303-MCP200","article-title":"Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease","volume":"6","author":"Vissers","year":"2007","journal-title":"Mol. Cell. Proteomics"},{"issue":"12","key":"10.1016\/j.bbalip.2013.11.004_bb0410","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/nchembio.466","article-title":"Ultrasensitive in situ visualization of active glucocerebrosidase molecules","volume":"6","author":"Witte","year":"2010","journal-title":"Nat. Chem. Biol."},{"issue":"8","key":"10.1016\/j.bbalip.2013.11.004_bb0415","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1002\/cbic.201000773","article-title":"Activity-based profiling of retaining \u03b2-glucosidases: a comparative study","volume":"12","author":"Witte","year":"2011","journal-title":"Chembiochem"},{"issue":"11","key":"10.1016\/j.bbalip.2013.11.004_bb0420","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/S1474-4422(12)70190-4","article-title":"The link between the GBA gene and parkinsonism","volume":"11","author":"Sidransky","year":"2012","journal-title":"Lancet Neurol."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0425","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.cell.2011.06.001","article-title":"Gaucher disease glucocerebrosidase and \u03b1-synuclein form a bidirectional pathogenic loop in synucleinopathies","volume":"146","author":"Mazzulli","year":"2011","journal-title":"Cell"},{"issue":"84","key":"10.1016\/j.bbalip.2013.11.004_bb0430","doi-asserted-by":"crossref","first-page":"10386","DOI":"10.1039\/c2cc35653h","article-title":"Tuning the leaving group in 2-deoxy-2-fluoroglucoside results in improved activity-based retaining \u03b2-glucosidase probes","volume":"48","author":"Walvoort","year":"2012","journal-title":"Chem. Commun. (Camb)"},{"issue":"50","key":"10.1016\/j.bbalip.2013.11.004_bb0435","doi-asserted-by":"crossref","first-page":"12529","DOI":"10.1002\/anie.201207771","article-title":"Novel Activity-based probes for broad-spectrum profiling of retaining \u03b2-exoglucosidases in\u2005situ and in\u2005vivo","volume":"51","author":"Kallemeijn","year":"2012","journal-title":"Angew. Chem. Int. Ed. Engl."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0440","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/0925-4439(93)90090-N","article-title":"Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease","volume":"1181","author":"van Weely","year":"1993","journal-title":"Biochim. Biophys. Acta"},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0445","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1074\/jbc.M610544200","article-title":"Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2","volume":"282","author":"Boot","year":"2007","journal-title":"J. Biol. Chem."},{"issue":"11","key":"10.1016\/j.bbalip.2013.11.004_bb0450","doi-asserted-by":"crossref","first-page":"2985","DOI":"10.1172\/JCI29224","article-title":"Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility","volume":"116","author":"Yildiz","year":"2006","journal-title":"J. Clin. Invest."},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0455","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1096\/fj.12-215152","article-title":"The nonlysosomal \u03b2-glucosidase GBA2 promotes endoplasmic reticulum stress and impairs tumorigenicity of human melanoma cells","volume":"27","author":"Sorli","year":"2009","journal-title":"FASEB J."},{"issue":"1433","key":"10.1016\/j.bbalip.2013.11.004_bb0460","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1098\/rstb.2003.1273","article-title":"Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention","volume":"358","author":"Aerts","year":"2003","journal-title":"Philos. Trans. R. Soc. Lond. B Biol. Sci."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0465","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/j.ymgme.2012.01.020","article-title":"Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann\u2013Pick C mice","volume":"105","author":"Nietupski","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0470","doi-asserted-by":"crossref","first-page":"e21758","DOI":"10.1371\/journal.pone.0021758","article-title":"Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease","volume":"6","author":"Ashe","year":"2011","journal-title":"PLoS One"},{"issue":"1-2","key":"10.1016\/j.bbalip.2013.11.004_bb0475","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.cca.2007.12.001","article-title":"Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease","volume":"389","author":"Ghauharali-van der Vlugt","year":"2008","journal-title":"Clin. Chim. Acta"},{"issue":"3\u20134","key":"10.1016\/j.bbalip.2013.11.004_bb0480","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.plipres.2009.03.002","article-title":"Glycosphingolipids and insulin resistance","volume":"48","author":"Langeveld","year":"2009","journal-title":"Prog. Lipid Res."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0485","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1210\/jc.2007-1702","article-title":"Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance","volume":"93","author":"Langeveld","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0490","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/978-1-4614-0650-1_7","article-title":"Glycosphingolipids and insulin resistance","volume":"721","author":"Aerts","year":"2011","journal-title":"Adv. Exp. Med. Biol."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0495","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.2337\/db06-1619","article-title":"Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity","volume":"56","author":"Aerts","year":"2007","journal-title":"Diabetes"},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0500","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/hep.22970","article-title":"Inhibiting glycosphingolipid synthesis ameliorates hepatic steatosis in obese mice","volume":"50","author":"Zhao","year":"2009","journal-title":"Hepatology"},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0505","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1023\/A:1010335505357","article-title":"Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy","volume":"24","author":"Platt","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0510","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1021\/jo061280p","article-title":"Development of adamantan-1-yl-methoxy-functionalized 1-deoxynojirimycin derivatives as selective inhibitors of glucosylceramide metabolism in man","volume":"72","author":"Wennekes","year":"2007","journal-title":"J. Org. Chem."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0515","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1021\/ml100192b","article-title":"Identification of potent and selective glucosylceramide synthase inhibitors from a library of D-gluco- and L-ido-configured N-alkylated iminosugars","volume":"2","author":"Ghisaidoobe","year":"2011","journal-title":"ACS Med. Chem. Lett."},{"issue":"2\u20133","key":"10.1016\/j.bbalip.2013.11.004_bb0520","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1007\/s10545-006-0272-5","article-title":"Substrate reduction therapy of glycosphingolipid storage disorders","volume":"29","author":"Aerts","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"issue":"9214","key":"10.1016\/j.bbalip.2013.11.004_bb0525","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1016\/S0140-6736(00)02161-9","article-title":"Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis","volume":"355","author":"Cox","year":"2000","journal-title":"Lancet"},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0530","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1006\/bcmd.2002.0497","article-title":"Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease","volume":"28","author":"Heitner","year":"2002","journal-title":"Blood Cells Mol. Dis."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0535","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1023\/A:1025902113005","article-title":"Advisory Council to the European Working Group on Gaucher Disease. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement","volume":"26","author":"Cox","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0540","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1023\/B:BOLI.0000045756.54006.17","article-title":"Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease","volume":"27","author":"Elstein","year":"2004","journal-title":"J. Inherit. Metab. Dis."},{"issue":"7","key":"10.1016\/j.bbalip.2013.11.004_bb0545","doi-asserted-by":"crossref","first-page":"2296","DOI":"10.1182\/blood-2007-02-075960","article-title":"Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement","volume":"110","author":"Elstein","year":"2007","journal-title":"Blood"},{"issue":"41","key":"10.1016\/j.bbalip.2013.11.004_bb0550","doi-asserted-by":"crossref","first-page":"26522","DOI":"10.1074\/jbc.273.41.26522","article-title":"Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase","volume":"273","author":"Overkleeft","year":"1998","journal-title":"J. Biol. Chem."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0555","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.ymgme.2007.04.001","article-title":"A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease","volume":"91","author":"McEachern","year":"2007","journal-title":"Mol. Genet. Metab."},{"issue":"20","key":"10.1016\/j.bbalip.2013.11.004_bb0560","doi-asserted-by":"crossref","first-page":"4095","DOI":"10.1182\/blood-2010-06-293902","article-title":"Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study","volume":"116","author":"Lukina","year":"2010","journal-title":"Blood"},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0565","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1182\/blood-2010-03-273151","article-title":"A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1","volume":"116","author":"Lukina","year":"2010","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0570","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/0006-291X(73)90916-9","article-title":"Deficiency of glucosylsphingosine: beta-glucosidase in Gaucher disease","volume":"54","author":"Raghavan","year":"1973","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb1090","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1111\/j.1471-4159.1982.tb07950.x","article-title":"Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease","volume":"39","author":"Nilsson","year":"1982","journal-title":"J. Neurochem."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0580","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/S1096-7192(02)00117-8","article-title":"Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype","volume":"76","author":"Orvisky","year":"2002","journal-title":"Mol. Genet. Metab."},{"issue":"16","key":"10.1016\/j.bbalip.2013.11.004_bb0585","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1182\/blood-2011-05-352971","article-title":"Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response","volume":"118","author":"Dekker","year":"2011","journal-title":"Blood"},{"issue":"45","key":"10.1016\/j.bbalip.2013.11.004_bb0590","doi-asserted-by":"crossref","first-page":"19473","DOI":"10.1073\/pnas.1003308107","article-title":"Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage","volume":"107","author":"Mistry","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0595","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1093\/oxfordjournals.jbchem.a124584","article-title":"The synthetic pathway for glucosylsphingosine in cultured fibroblasts","volume":"116","author":"Yamaguchi","year":"1994","journal-title":"J. Biochem."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0600","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.bcmd.2010.07.009","article-title":"The cytosolic \u03b2-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation","volume":"46","author":"Dekker","year":"2011","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0605","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3733","article-title":"\u03b1-Galactosidase a deficiency. Fabry disease","author":"Desnick","year":"2001"},{"issue":"21","key":"10.1016\/j.bbalip.2013.11.004_bb0610","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","article-title":"Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency","volume":"276","author":"Brady","year":"1967","journal-title":"N. Engl. J. Med."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0615","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/BF00446279","article-title":"Characterization of alpha-galactosidase isoenzymes in normal and Fabry human-Chinese Hamster somatic cell hybrids","volume":"36","author":"Hamers","year":"1977","journal-title":"Hum. Genet."},{"issue":"11","key":"10.1016\/j.bbalip.2013.11.004_bb0620","doi-asserted-by":"crossref","first-page":"3903","DOI":"10.1073\/pnas.85.11.3903","article-title":"Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3\u2032 untranslated region","volume":"85","author":"Bishop","year":"1988","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0625","doi-asserted-by":"crossref","first-page":"3148","DOI":"10.1016\/S0021-9258(18)51888-3","article-title":"Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid","volume":"238","author":"Sweeley","year":"1963","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0630","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"2741","article-title":"\u03b1-Galactosidase a deficiency. Fabry disease","author":"Desnick","year":"1996"},{"issue":"Suppl. 2","key":"10.1016\/j.bbalip.2013.11.004_bb0635","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1023\/A:1012447102358","article-title":"Natural history of Fabry disease in affected males and obligate carrier females","volume":"24","author":"MacDermot","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0640","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1517\/14728222.11.6.821","article-title":"Novel therapeutic targets for the treatment of Fabry disease","volume":"11","author":"Hollak","year":"2007","journal-title":"Expert Opin. Ther. Targets."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0645","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset Fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0650","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1161\/CIRCGENETICS.109.862920","article-title":"High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population","volume":"2","author":"Lin","year":"2009","journal-title":"Circ. Cardiovasc. Genet."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0655","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."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0660","first-page":"1186","article-title":"Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease","volume":"53","author":"Eng","year":"1993","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0665","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S1096-7192(03)00136-7","article-title":"Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma","volume":"80","author":"Froissart","year":"2003","journal-title":"Mol. Genet. Metab."},{"issue":"11","key":"10.1016\/j.bbalip.2013.11.004_bb0670","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1038\/ejhg.2011.87","article-title":"Fabry or not Fabry\u2014a question of ascertainment","volume":"19","author":"Houge","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.bbalip.2013.11.004_bb0675","doi-asserted-by":"crossref","first-page":"3074","DOI":"10.1093\/ndt\/gfm462","article-title":"A wild zebra chase","volume":"22","author":"Woywodt","year":"2007","journal-title":"Nephrol. Dial. Transplant."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0680","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1053\/j.ajkd.2006.05.034","article-title":"Iatrogenic phospholipidosis mimicking Fabry disease","volume":"48","author":"Bracamonte","year":"2006","journal-title":"Am. J. Kidney Dis."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0685","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/modpathol.3800344","article-title":"Chloroquine-induced lipidosis mimicking Fabry disease","volume":"18","author":"Albay","year":"2005","journal-title":"Mod. Pathol."},{"issue":"12","key":"10.1016\/j.bbalip.2013.11.004_bb0690","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1016\/S0046-8177(03)00396-4","article-title":"Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease","volume":"34","author":"Linthorst","year":"2003","journal-title":"Hum. Pathol."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0695","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S1054-8807(02)00118-7","article-title":"Chloroquine cardiotoxicity: clinicopathologic features in three patients and comparison with three patients with Fabry disease","volume":"11","author":"Roos","year":"2002","journal-title":"Cardiovasc. Pathol."},{"issue":"12","key":"10.1016\/j.bbalip.2013.11.004_bb0700","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.1212\/01.WNL.0000166000.24321.4F","article-title":"Effect of genetic modifiers on cerebral lesions in Fabry disease","volume":"64","author":"Altarescu","year":"2005","journal-title":"Neurology"},{"issue":"Suppl. 2","key":"10.1016\/j.bbalip.2013.11.004_bb0705","doi-asserted-by":"crossref","first-page":"S349","DOI":"10.1007\/s10545-008-0920-z","article-title":"Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease","volume":"31","author":"Rohard","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0710","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.1046\/j.1523-1755.2002.00675.x","article-title":"Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy","volume":"62","author":"Thurberg","year":"2002","journal-title":"Kidney Int."},{"issue":"19","key":"10.1016\/j.bbalip.2013.11.004_bb0715","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1161\/CIRCULATIONAHA.108.841494","article-title":"Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy","volume":"119","author":"Thurberg","year":"2009","journal-title":"Circulation"},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb1095","doi-asserted-by":"crossref","first-page":"2540","DOI":"10.1073\/pnas.94.6.2540","article-title":"Alpha-Galactosidase A deficient mice: a model of Fabry disease","volume":"94","author":"Ohshima","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0725","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1086\/316953","article-title":"Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice","volume":"68","author":"Ioannou","year":"2001","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0730","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.cjca.2010.12.035","article-title":"Myocardial alterations in the murine model of Fabry disease can be reversed by enzyme replacement therapy","volume":"27","author":"Rozenfeld","year":"2011","journal-title":"Can. J. Cardiol."},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0735","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1097\/01.ASN.0000043901.45141.D4","article-title":"Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis","volume":"14","author":"Eitzman","year":"2003","journal-title":"J. Am. Soc. Nephrol."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0740","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1161\/01.CIR.0000154550.15963.80","article-title":"Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency","volume":"111","author":"Bodary","year":"2005","journal-title":"Circulation"},{"key":"10.1016\/j.bbalip.2013.11.004_bb0745","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1111\/j.1440-1681.2008.04984.x","article-title":"Vascular dysfunction in the alpha-galactosidase A-knockout mouse is an endothelial cell-, plasma membrane-based defect","volume":"35","author":"Park","year":"2008","journal-title":"Clin. Exp. Pharmacol. Physiol."},{"issue":"9","key":"10.1016\/j.bbalip.2013.11.004_bb0750","doi-asserted-by":"crossref","first-page":"1975","DOI":"10.1681\/ASN.2008111190","article-title":"Decreased nitric oxide bioavailability in a mouse model of Fabry disease","volume":"20","author":"Shu","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"issue":"11","key":"10.1016\/j.bbalip.2013.11.004_bb0755","doi-asserted-by":"crossref","first-page":"e15033","DOI":"10.1371\/journal.pone.0015033","article-title":"Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease","volume":"5","author":"Marshall","year":"2010","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0760","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.nbd.2008.09.001","article-title":"Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice","volume":"33","author":"Rodrigues","year":"2009","journal-title":"Neurobiol. Dis."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0765","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s00428-011-1051-8","article-title":"Kidney histologic alterations in \u03b1-Galactosidase-deficient mice","volume":"458","author":"Valbuena","year":"2011","journal-title":"Virchows Arch."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0770","doi-asserted-by":"crossref","first-page":"e39975","DOI":"10.1371\/journal.pone.0039975","article-title":"Mannose 6-phosphate receptor and sortilin mediated endocytosis of \u03b1-galactosidase A in kidney endothelial cells","volume":"7","author":"Prabakaran","year":"2012","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0775","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/ki.1978.32","article-title":"Early renal changes in hemizygous and heterozygous patients with Fabry's disease","volume":"13","author":"Gubler","year":"1978","journal-title":"Kidney Int."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0780","first-page":"85","article-title":"Diagnostic value of kidney biopsy in heterozygous Fabry's disease","volume":"109","author":"Farge","year":"1985","journal-title":"Arch. Pathol. Lab. Med."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0785","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1159\/000247189","article-title":"Fabry's disease: heterozygous form of different expression in two monozygous twin sisters","volume":"187","author":"Marguery","year":"1993","journal-title":"Dermatology"},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0790","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/0002-9378(90)90410-9","article-title":"Demonstration of Fabry's disease deposits in placenta","volume":"162","author":"Popli","year":"1990","journal-title":"Am. J. Obstet. Gynecol."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0795","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1007\/s10545-006-0196-0","article-title":"Manifestations of Fabry disease in placental tissue","volume":"29","author":"Vedder","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"issue":"447","key":"10.1016\/j.bbalip.2013.11.004_bb0800","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1080\/08035320510028111","article-title":"Is globotriaosylceramide a useful biomarker in Fabry disease?","volume":"94","author":"Young","year":"2005","journal-title":"Acta Paediatr. Suppl."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0805","doi-asserted-by":"crossref","first-page":"289","DOI":"10.2174\/187152506778520718","article-title":"The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature","volume":"4","author":"Bekri","year":"2006","journal-title":"Cardiovasc. Hematol. Agents Med. Chem."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0810","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s10545-006-0484-8","article-title":"The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels","volume":"30","author":"Vedder","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"issue":"21","key":"10.1016\/j.bbalip.2013.11.004_bb0815","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","article-title":"Enzyme replacement therapy in Fabry disease: a randomized controlled trial","volume":"285","author":"Schiffmann","year":"2001","journal-title":"JAMA"},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0820","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A\u2014replacement therapy in Fabry's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0825","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1086\/345309","article-title":"Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA","volume":"72","author":"Blom","year":"2003","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.bbalip.2013.11.004_bb0830","doi-asserted-by":"crossref","first-page":"e598","DOI":"10.1371\/journal.pone.0000598","article-title":"Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2mg\/kg","volume":"2","author":"Vedder","year":"2007","journal-title":"PLoS ONE"},{"key":"10.1016\/j.bbalip.2013.11.004_bb0835","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1007\/s10545-009-1164-2","article-title":"Management of neuronopathic Gaucher disease: revised recommendations","volume":"32","author":"Vellodi","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0840","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1002\/ana.410420412","article-title":"Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease","volume":"42","author":"Schiffmann","year":"1997","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0845","first-page":"A425","article-title":"Cerebrospinal-fluid infusion of alglucerase in the treatment for acute neuronopathic Gaucher's disease","volume":"38","author":"Bembi","year":"1995","journal-title":"Pediatr. Res."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0850","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1073\/pnas.76.1.481","article-title":"Modification of the blood\u2013brain barrier: increased concentration and fate of enzymes entering the brain","volume":"76","author":"Barranger","year":"1979","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0855","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1002\/ana.20444","article-title":"Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease","volume":"57","author":"Lonser","year":"2005","journal-title":"Ann. Neurol."},{"issue":"8","key":"10.1016\/j.bbalip.2013.11.004_bb0860","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0865","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1373\/clinchem.2012.192138","article-title":"Quantification of globotriaosylsphingosine in plasma and urine of Fabry patients by stable isotope ultraperformance liquid chromatography\u2013tandem mass spectrometry","volume":"59","author":"Gold","year":"2013","journal-title":"Clin. Chem."},{"issue":"1","key":"10.1016\/j.bbalip.2013.11.004_bb0870","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.bbadis.2010.09.007","article-title":"Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy","volume":"1812","author":"van Breemen","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"issue":"21","key":"10.1016\/j.bbalip.2013.11.004_bb0875","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1016\/j.jacc.2008.02.050","article-title":"Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results","volume":"51","author":"Linthorst","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0880","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1111\/j.1399-0004.2011.01643.x","article-title":"Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation","volume":"80","author":"Bouwman","year":"2011","journal-title":"Clin. Genet."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0885","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ymgme.2010.03.020","article-title":"Plasma globotriaosylsphingosine as a biomarker of Fabry disease","volume":"100","author":"Togawa","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbalip.2013.11.004_bb0890","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.jchromb.2011.11.020","article-title":"Quantification of the Fabry marker lysoGb3 in human plasma by tandem mass spectrometry","volume":"883\u2013884","author":"Kr\u00fcger","year":"2012","journal-title":"J. Chromatogr. B Analyt. Technol. Biomed. Life Sci."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0895","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1021\/ac203433e","article-title":"Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics","volume":"84","author":"Auray-Blais","year":"2012","journal-title":"Anal. Chem."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0900","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1021\/ac303033v","article-title":"Multiplex analysis of novel urinary lyso-Gb3-related biomarkers for Fabry disease by tandem mass spectrometry","volume":"85","author":"Lavoie","year":"2013","journal-title":"Anal. Chem."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_rf1075","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1021\/ac203433e","article-title":"Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics","volume":"84","author":"Auray-Blais","year":"2012","journal-title":"Anal. Chem."},{"key":"10.1016\/j.bbalip.2013.11.004_rf1080","doi-asserted-by":"crossref","DOI":"10.1021\/ac401542k","article-title":"A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients","author":"Manwaring","year":"2013","journal-title":"Anal. Chem."},{"issue":"9","key":"10.1016\/j.bbalip.2013.11.004_bb1100","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.bbadis.2010.05.003","article-title":"Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease","volume":"1802","author":"Rombach","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbalip.2013.11.004_bb0915","article-title":"A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance","author":"van der Tol","year":"2013","journal-title":"J. Med. Genet."},{"issue":"10","key":"10.1016\/j.bbalip.2013.11.004_bb0920","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1093\/hmg\/3.10.1795","article-title":"Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene","volume":"3","author":"Eng","year":"1994","journal-title":"Hum. Mol. Genet."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0925","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1161\/01.ATV.0000209649.60409.38","article-title":"Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition","volume":"26","author":"Barbey","year":"2006","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"issue":"439","key":"10.1016\/j.bbalip.2013.11.004_bb0930","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/j.1651-2227.2002.tb03113.x","article-title":"Arterial remodelling in Fabry disease","volume":"91","author":"Boutouyrie","year":"2002","journal-title":"Acta Paediatr. Suppl."},{"issue":"5","key":"10.1016\/j.bbalip.2013.11.004_bb0935","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1007\/s10545-006-0340-x","article-title":"Structural and functional changes in peripheral vasculature of Fabry patients","volume":"29","author":"Kalliokoski","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0940","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1161\/HYPERTENSIONAHA.112.195685","article-title":"Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine","volume":"60","author":"Rombach","year":"2012","journal-title":"Hypertension"},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0945","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ymgme.2009.10.004","article-title":"Vasculopathy in patients with Fabry disease: current controversies and research directions","volume":"99","author":"Rombach","year":"2010","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb0950","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2008.06.016","article-title":"Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells","volume":"95","author":"Shen","year":"2008","journal-title":"Mol. Genet. Metab."},{"issue":"1\u20132","key":"10.1016\/j.bbalip.2013.11.004_bb0955","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.jns.2007.01.053","article-title":"The cerebral vasculopathy of Fabry disease","volume":"257","author":"Moore","year":"2007","journal-title":"J. Neurol. Sci."},{"issue":"23\u201324","key":"10.1016\/j.bbalip.2013.11.004_bb0960","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1016\/j.cca.2010.07.038","article-title":"How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?","volume":"411","author":"Auray-Blais","year":"2010","journal-title":"Clin. Chim. Acta"},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb0965","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ymgme.2012.03.010","article-title":"Small fiber neuropathy in Fabry disease","volume":"106","author":"Biegstraaten","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"15","key":"10.1016\/j.bbalip.2013.11.004_bb0970","doi-asserted-by":"crossref","first-page":"11178","DOI":"10.1074\/jbc.M109.092973","article-title":"Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids","volume":"285","author":"Penno","year":"2010","journal-title":"J. Biol. Chem."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb0975","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1093\/ndt\/gfq306","article-title":"Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy","volume":"26","author":"Sanchez-Ni\u00f1o","year":"2011","journal-title":"Nephrol. Dial. Transplant."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0980","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.bbrc.2010.08.006","article-title":"Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease","volume":"399","author":"Togawa","year":"2010","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"10","key":"10.1016\/j.bbalip.2013.11.004_bb0985","doi-asserted-by":"crossref","first-page":"e478054","DOI":"10.1371\/journal.pone.0047805","article-title":"Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment Outcome","volume":"7","author":"Rombach","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.bbalip.2013.11.004_bb0990","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/1750-1172-6-69","article-title":"Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients","volume":"6","author":"Smid","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb0995","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1111\/j.1523-1755.2004.00924.x","article-title":"Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta","volume":"66","author":"Linthorst","year":"2004","journal-title":"Kidney Int."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb1000","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.ymgme.2007.06.013","article-title":"Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy","volume":"92","author":"Ohashi","year":"2007","journal-title":"Mol. Genet. Metab."},{"issue":"4","key":"10.1016\/j.bbalip.2013.11.004_bb1005","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1373\/clinchem.2006.079012","article-title":"HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma","volume":"53","author":"Groener","year":"2007","journal-title":"Clin. Chem."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb1010","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ymgme.2006.04.013","article-title":"Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy","volume":"89","author":"Vedder","year":"2006","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb1015","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/S1079-9796(03)00163-3","article-title":"Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency)","volume":"31","author":"Linthorst","year":"2003","journal-title":"Blood Cells Mol. Dis."},{"issue":"3","key":"10.1016\/j.bbalip.2013.11.004_bb1020","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.bcmd.2009.12.006","article-title":"Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study","volume":"44","author":"Boomsma","year":"2010","journal-title":"Blood Cells Mol. Dis."},{"issue":"27","key":"10.1016\/j.bbalip.2013.11.004_bb1025","doi-asserted-by":"crossref","first-page":"20423","DOI":"10.1074\/jbc.R110.134452","article-title":"Common and uncommon pathogenic cascades in lysosomal storage diseases","volume":"285","author":"Vitner","year":"2010","journal-title":"J. Biol. Chem."},{"issue":"2","key":"10.1016\/j.bbalip.2013.11.004_bb1030","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.bcmd.2008.03.007","article-title":"Plasmalogen levels in Gaucher disease","volume":"41","author":"Moraitou","year":"2008","journal-title":"Blood Cells Mol. Dis."},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb1035","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1194\/jlr.M038232","article-title":"Selective reduction of bis(monoacylglycero)phosphate ameliorates the storage burden in a THP-1 macrophage model of Gaucher disease","volume":"54","author":"Hein","year":"2013","journal-title":"J. Lipid Res."},{"issue":"8","key":"10.1016\/j.bbalip.2013.11.004_bb1040","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1194\/jlr.M800092-JLR200","article-title":"Lipid composition of microdomains is altered in a cell model of Gaucher disease","volume":"49","author":"Hein","year":"2008","journal-title":"J. Lipid Res."},{"issue":"Suppl. 2","key":"10.1016\/j.bbalip.2013.11.004_bb1045","first-page":"1","article-title":"Glycosphingolipid mediated caveolin-1 oligomerization","volume":"18","author":"Shu","year":"2012","journal-title":"J. Glycomics Lipidomics"},{"issue":"6","key":"10.1016\/j.bbalip.2013.11.004_bb1050","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-6-16","article-title":"Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders","volume":"16","author":"Hollak","year":"2011","journal-title":"Orphanet J. Rare Dis."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1388198113002461?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1388198113002461?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,3,12]],"date-time":"2022-03-12T05:24:36Z","timestamp":1647062676000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1388198113002461"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5]]},"references-count":211,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["S1388198113002461"],"URL":"https:\/\/doi.org\/10.1016\/j.bbalip.2013.11.004","relation":{},"ISSN":["1388-1981"],"issn-type":[{"value":"1388-1981","type":"print"}],"subject":[],"published":{"date-parts":[[2014,5]]}}}