{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T20:26:29Z","timestamp":1786998389465,"version":"build-2736575974"},"reference-count":46,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"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":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2011,11]]},"DOI":"10.1016\/j.ymgme.2011.05.008","type":"journal-article","created":{"date-parts":[[2011,5,21]],"date-time":"2011-05-21T04:30:20Z","timestamp":1305952220000},"page":"314-318","source":"Crossref","is-referenced-by-count":12,"title":["Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a \u201csequencing cryptic\u201d \u03b1-galactosidase a large deletion"],"prefix":"10.1016","volume":"104","author":[{"given":"Ulla","family":"Feldt-Rasmussen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Dobrovolny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Nazarenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Ballegaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lis","family":"Hasholt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c5se K.","family":"Rasmussen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik I.","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soren S.","family":"Sorensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flemming","family":"Wibrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2011.05.008_bb0005","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"3733","article-title":"\u03b1-galactosidase A deficiency: Fabry disease","author":"Desnick","year":"2001"},{"key":"10.1016\/j.ymgme.2011.05.008_bb0010","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.38.11.769","article-title":"Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate","volume":"38","author":"MacDermot","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0015","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1111\/j.1365-2362.2004.01309.x","article-title":"Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey","volume":"34","author":"Mehta","year":"2004","journal-title":"Eur. J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0020","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1007\/s10545-007-0521-2","article-title":"Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry","volume":"30","author":"Eng","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0025","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","article-title":"Fabry Registry, females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry","volume":"93","author":"Wilcox","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0030","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human \u03b1-galactosidase A \u2014 replacement therapy in Fabry's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0035","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1086\/422366","article-title":"International Fabry disease study group, long-term safety and efficacy of enzyme replacement therapy for Fabry disease","volume":"75","author":"Wilcox","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0040","doi-asserted-by":"crossref","first-page":"77","DOI":"10.7326\/0003-4819-146-2-200701160-00148","article-title":"Fabry Disease Clinical Trial Study Group, Agalsidase-beta therapy for advanced Fabry disease: a randomized trial","volume":"146","author":"Banikazemi","year":"2007","journal-title":"Ann. Intern. Med."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0045","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1681\/ASN.2006080816","article-title":"Sustained, long-term renal stabilization after 54months of agalsidase beta therapy in patients with Fabry disease","volume":"18","author":"Germain","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0050","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1681\/ASN.2006111263","article-title":"Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing","volume":"18","author":"Schiffmann","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0055","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1002\/humu.21074","article-title":"Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)","volume":"30","author":"Hwu","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0060","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."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0065","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."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0070","first-page":"157","article-title":"Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes, Alpha-galactosidase activities in plasma, serum, urine, and leukocytes","volume":"81","author":"Desnick","year":"1973","journal-title":"J. Lab. Clin. Med."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0075","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/0009-8981(81)90384-3","article-title":"Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease","volume":"112","author":"Mayes","year":"1981","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2011.05.008_bb0080","first-page":"1186","article-title":"Nature and frequency of mutations in the \u03b1-galactosidase gene that cause Fabry disease","volume":"53","author":"Eng","year":"1993","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0085","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/BF03401671","article-title":"Fabry disease: thirty-five mutations in the \u03b1-galactosidase A gene in patients with classic and variant phenotypes","volume":"3","author":"Eng","year":"1997","journal-title":"Mol. Med."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0090","doi-asserted-by":"crossref","first-page":"177","DOI":"10.3109\/00365519609088605","article-title":"The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease","volume":"56","author":"Madsen","year":"1996","journal-title":"Scand. J. Clin. Lab. Invest."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0095","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1186\/1479-7364-2-5-297","article-title":"Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations","volume":"2","author":"Shabbeer","year":"2006","journal-title":"Hum. Genomics"},{"key":"10.1016\/j.ymgme.2011.05.008_bb0100","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry's disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0105","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1086\/339431","article-title":"Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype","volume":"70","author":"Ishii","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0110","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1055\/s-2001-15398","article-title":"Skewed X inactivation in X-linked disorders","volume":"19","author":"Van den Veyver","year":"2001","journal-title":"Semin. Reprod. Med."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0115","doi-asserted-by":"crossref","first-page":"e103","DOI":"10.1136\/jmg.40.8.e103","article-title":"Fabry disease: molecular studies in Italian patients with X-inactivation analysis in manifesting carriers","volume":"40","author":"Morrone","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0120","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1007\/s00109-005-0656-2","article-title":"Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population","volume":"83","author":"Dobrovolny","year":"2005","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0125","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1080\/08035320600618809","article-title":"Disease manifestations and X-inactivation in heterozygous females with Fabry disease","volume":"95","author":"Maier","year":"2006","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0130","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."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0135","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1093\/eurjhf\/hfq073","article-title":"Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women","volume":"12","author":"Havndrup","year":"2010","journal-title":"Eur. J. Heart Fail."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0140","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/1479-7364-4-2-69","article-title":"The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics","volume":"4","author":"Stenson","year":"2009","journal-title":"Hum. Genomics"},{"key":"10.1016\/j.ymgme.2011.05.008_bb0145","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1172\/JCI114027","article-title":"Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene","volume":"83","author":"Bernstein","year":"1989","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0150","doi-asserted-by":"crossref","first-page":"9319","DOI":"10.1016\/S0021-9258(19)38851-9","article-title":"Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene","volume":"265","author":"Kornreich","year":"1990","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0155","doi-asserted-by":"crossref","DOI":"10.1002\/humu.21474","article-title":"Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel \u03b1-galactosidase A (GLA) deletions causing Fabry disease","author":"Dobrovolny","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0160","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/0006-291X(90)91273-U","article-title":"Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing","volume":"170","author":"Fukuhara","year":"1990","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0165","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human alpha-galactosidase A \u2014 replacement therapy in Fabry's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0170","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/humu.9172","article-title":"Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female","volume":"22","author":"Rodr\u00edquez-Mar\u00ed","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0175","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1111\/j.1468-1331.2006.01611.x","article-title":"Contribution of clinical screening to carrier detection in a large chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion","volume":"14","author":"Ro","year":"2007","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0180","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.ymgme.2008.03.017","article-title":"Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)","volume":"94","author":"Schirinzi","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0185","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.ymgme.2009.11.001","article-title":"Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative","volume":"99","author":"Sirrs","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0190","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/0005-2760(80)90227-1","article-title":"A procedure for the quantitative isolation of brain gangliosides","volume":"617","author":"Svennerholm","year":"1980","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2011.05.008_bb0195","doi-asserted-by":"crossref","first-page":"1772","DOI":"10.1111\/j.1471-4159.1987.tb02435.x","article-title":"Large alterations in ganglioside and neutral glycosphingolipid patterns in brains from cases with infantile neuronal ceroid lipofuscinosis\/polyunsaturated fatty acid lipidosis","volume":"49","author":"Svennerholm","year":"1987","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0200","first-page":"349","article-title":"Segmental distribution of the endocytosis receptor gp330 in renal proximal tubules","volume":"66","author":"Christensen","year":"1995","journal-title":"Eur. J. Cell Biol."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0205","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<207::AID-HUMU16>3.0.CO;2-C","article-title":"Five novel mutations in fourteen patients with Fabry Disease","volume":"15","author":"Rosenberg","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0210","first-page":"352","article-title":"Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease","volume":"126","author":"Ferreira","year":"2009","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0215","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1046\/j.1445-5994.2002.00291.x","article-title":"Clinical features of Fabry's disease in Australian patients","volume":"32","author":"Galanos","year":"2002","journal-title":"Intern. Med. J."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0220","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1097\/01.md.0000178976.62537.6b","article-title":"The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women","volume":"84","author":"Gupta","year":"2005","journal-title":"Medicine"},{"key":"10.1016\/j.ymgme.2011.05.008_bb0225","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1681\/ASN.2006080822","article-title":"Distribution of \u201c\u03b1-galactosidase A in human kidney and renal accumulation and distribution of recombinant \u201d\u03b1-galactosidase A in Fabry mice","volume":"18","author":"Christensen","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ymgme.2011.05.008_bb0230","doi-asserted-by":"crossref","first-page":"3301","DOI":"10.1093\/nar\/17.8.3301","article-title":"Nucleotide sequence of the human alpha-galactosidase A gene","volume":"17","author":"Kornreich","year":"1989","journal-title":"Nucleic Acids Res."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719211001600?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719211001600?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,11,23]],"date-time":"2021-11-23T16:52:06Z","timestamp":1637686326000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719211001600"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":46,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["S1096719211001600"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2011.05.008","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}