{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T20:24:50Z","timestamp":1793391890193,"version":"4.5.0"},"reference-count":54,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T00:00:00Z","timestamp":1668470400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1016\/j.ymgme.2022.11.002","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T20:53:18Z","timestamp":1667940798000},"page":"106963","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":57,"title":["Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3\u00a0years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study"],"prefix":"10.1016","volume":"138","author":[{"given":"Patrick B.","family":"Deegan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozlem","family":"Goker-Alpan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarekegn","family":"Geberhiwot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Hopkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Lukina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Tylki-Szymanska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atef","family":"Zaher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Sensinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastiaan J.M.","family":"Gaemers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijay","family":"Modur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth L.","family":"Thurberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jyoti","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Behzad","family":"Najafian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Mauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pronabesh","family":"DasMahapatra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William R.","family":"Wilcox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique P.","family":"Germain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2022.11.002_bb0005","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0010","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.cca.2014.08.002","article-title":"Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry","volume":"438","author":"Auray-Blais","year":"2015","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0015","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.2174\/0929867324666170616102112","article-title":"Biomarkers for diagnosing and staging of Fabry disease","volume":"25","author":"Kramer","year":"2018","journal-title":"Curr. Med. Chem."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0020","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","article-title":"Fabry's disease","volume":"372","author":"Zarate","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0025","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."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0030","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/gim.2014.120","article-title":"Fabry disease in infancy and early childhood: a systematic literature review","volume":"17","author":"Laney","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0035","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/ki.2010.484","article-title":"Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease","volume":"79","author":"Najafian","year":"2011","journal-title":"Kidney Int."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0040","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1053\/j.ajkd.2007.12.032","article-title":"Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria","volume":"51","author":"Tondel","year":"2008","journal-title":"Am. J. Kidney Dis."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0045","first-page":"7","article-title":"Fetal pathology in Fabry\u2019s disease and mucopolysaccharidosis type I","volume":"34","author":"Elleder","year":"1998","journal-title":"Cesk. Patol."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0050","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1203\/PDR.0b013e318183f132","article-title":"Characterization of Fabry disease in 352 pediatric patients in the Fabry registry","volume":"64","author":"Hopkin","year":"2008","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0055","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1399-0004.2011.01671.x","article-title":"Fabry disease in children and response to enzyme replacement therapy: results from the Fabry outcome survey","volume":"81","author":"Ramaswami","year":"2012","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0060","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1681\/ASN.2016090964","article-title":"Characterization of classical and nonclassical Fabry disease: a multicenter study","volume":"28","author":"Arends","year":"2017","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0065","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","article-title":"Fabry disease revisited: management and treatment recommendations for adult patients","volume":"123","author":"Ortiz","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0070","doi-asserted-by":"crossref","first-page":"2102","DOI":"10.1093\/ndt\/gfp031","article-title":"Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy","volume":"24","author":"Schiffmann","year":"2009","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0075","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1097\/GIM.0b013e3181bb05bb","article-title":"Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry registry","volume":"11","author":"Waldek","year":"2009","journal-title":"Genet Med"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0080","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.ymgme.2018.09.007","article-title":"The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - a systematic literature review by a European panel of experts","volume":"126","author":"Germain","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0085","article-title":"The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts","volume":"19","author":"Germain","year":"2019","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0090","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.ymgme.2018.04.007","article-title":"The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - a systematic literature review by a European panel of experts","volume":"126","author":"Spada","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0095","doi-asserted-by":"crossref","first-page":"1969","DOI":"10.1007\/s40265-021-01621-y","article-title":"Mechanisms of neutralizing anti-drug antibody formation and clinical relevance on therapeutic efficacy of enzyme replacement therapies in Fabry disease","volume":"81","author":"Lenders","year":"2021","journal-title":"Drugs"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0100","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.ymgme.2011.12.006","article-title":"Anti-alpha-galactosidase a antibody response to agalsidase beta treatment: data from the Fabry registry","volume":"105","author":"Wilcox","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0105","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1056\/NEJMoa1510198","article-title":"Treatment of Fabry\u2019s disease with the pharmacologic chaperone migalastat","volume":"375","author":"Germain","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0110","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1002\/ajmg.a.61105","article-title":"Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study","volume":"179","author":"Hughes","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0115","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1038\/gim.2016.122","article-title":"The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat","volume":"19","author":"Benjamin","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0120","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.omtm.2020.08.012","article-title":"In vitro and in vivo amenability to migalastat in Fabry disease","volume":"19","author":"Lenders","year":"2020","journal-title":"Mol Ther Methods Clin Dev"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0125","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/jimd.12167","article-title":"Fabry disease genotype, phenotype, and migalastat amenability: insights from a national cohort","volume":"43","author":"Nowak","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0130","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.3390\/ijms17071065","article-title":"Less is more: substrate reduction therapy for lysosomal storage disorders","volume":"17","author":"Coutinho","year":"2016","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0135","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1159\/000444926","article-title":"Targeting glycosphingolipid metabolism to treat kidney disease","volume":"134","author":"Shayman","year":"2016","journal-title":"Nephron"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0140","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."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0145","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1002\/ajh.26276","article-title":"Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: phase 3 ENGAGE trial final results","volume":"96","author":"Mistry","year":"2021","journal-title":"Am. J. Hematol."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0150","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"International collaborative Fabry disease study, safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry\u2019s disease","volume":"345","author":"Eng","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0155","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1111\/j.0022-202X.2004.22425.x","article-title":"Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies","volume":"122","author":"Thurberg","year":"2004","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0160","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0152812","article-title":"One year of enzyme replacement therapy reduces globotriaosylceramide inclusions in podocytes in male adult patients with Fabry disease","volume":"11","author":"Najafian","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0165","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0168346","article-title":"Urinary podocyte loss is increased in patients with Fabry disease and correlates with clinical severity of Fabry nephropathy","volume":"11","author":"Fall","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0170","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1161\/STROKEAHA.114.006283","article-title":"Cerebrovascular involvement in Fabry disease: current status of knowledge","volume":"46","author":"Kolodny","year":"2015","journal-title":"Stroke"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0175","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1093\/ehjci\/jev014","article-title":"Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging","volume":"16","author":"Lang","year":"2015","journal-title":"Eur. Heart J. Cardiovasc. Imaging"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0180","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1136\/jmedgenet-2017-104863","article-title":"Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study","volume":"55","author":"Arends","year":"2018","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0185","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1002\/cpt.1321","article-title":"Oral chaperone therapy migalastat for treating Fabry disease: enzymatic response and serum biomarker changes after 1 year","volume":"105","author":"Muntze","year":"2019","journal-title":"Clin. Pharmacol. Ther."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0190","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1007\/s10545-007-0708-6","article-title":"Depression in adults with Fabry disease: a common and under-diagnosed problem","volume":"30","author":"Cole","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0195","first-page":"73","article-title":"Cognitive impairments and subjective cognitive complaints in Fabry disease: A nationwide study and review of the literature","volume":"41","author":"Loeb","year":"2018","journal-title":"JIMD Rep"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0200","first-page":"13","article-title":"Treatment of depression in adults with Fabry disease","volume":"38","author":"Ali","year":"2018","journal-title":"JIMD Rep"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0205","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/s13023-020-1307-y","article-title":"Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain","volume":"15","author":"Korver","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0210","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1212\/WNL.0000000000001450","article-title":"Clinical prodromes of neurodegeneration in Anderson-Fabry disease","volume":"84","author":"Lohle","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0215","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/cpt.790","article-title":"Lucerastat, an iminosugar for substrate reduction therapy: tolerability, pharmacodynamics, and pharmacokinetics in patients with Fabry disease on enzyme replacement","volume":"103","author":"Guerard","year":"2018","journal-title":"Clin. Pharmacol. Ther."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0220","doi-asserted-by":"crossref","DOI":"10.1093\/ndt\/gfaa140.MO035","article-title":"Historical control analysis demonstrates superior reduction of plasma globotriaosylceramide by venglustat compared with placebo or agalsidase beta in classic Fabry disease patients","volume":"35","author":"Germain","year":"2020","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0225","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/ndt\/gfi152","article-title":"Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting","volume":"21","author":"Schiffmann","year":"2006","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0230","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1038\/s41436-019-0451-z","article-title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","volume":"21","author":"Germain","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0235","doi-asserted-by":"crossref","first-page":"389","DOI":"10.2119\/molmed.2015.00088","article-title":"Efficacy of enzyme and substrate reduction therapy with a novel antagonist of glucosylceramide synthase for Fabry disease","volume":"21","author":"Ashe","year":"2015","journal-title":"Mol. Med."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0240","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1038\/nrd.2017.214","article-title":"Emptying the stores: lysosomal diseases and therapeutic strategies","volume":"17","author":"Platt","year":"2018","journal-title":"Nat. Rev. Drug Discov."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0245","doi-asserted-by":"crossref","first-page":"21560","DOI":"10.1074\/jbc.M110.118588","article-title":"Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases","volume":"285","author":"Tomasic","year":"2010","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0250","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1172\/JCI9711","article-title":"Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation","volume":"105","author":"Abe","year":"2000","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0255","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1002\/1873-3468.12104","article-title":"Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases","volume":"590","author":"Ferraz","year":"2016","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0260","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1159\/000440865","article-title":"Gaucher disease: clinical, biological and therapeutic aspects","volume":"83","author":"Dandana","year":"2016","journal-title":"Pathobiology"},{"key":"10.1016\/j.ymgme.2022.11.002_bb0265","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."},{"key":"10.1016\/j.ymgme.2022.11.002_bb0270","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"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719222004322?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719222004322?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:54:23Z","timestamp":1761090863000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719222004322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":54,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["S1096719222004322"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2022.11.002","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3\u00a0years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2022.11.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"106963"}}