{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T19:04:51Z","timestamp":1790363091344,"version":"4.1.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"2-3","license":[{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"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":[[2010,10]]},"DOI":"10.1016\/j.ymgme.2010.06.002","type":"journal-article","created":{"date-parts":[[2010,6,23]],"date-time":"2010-06-23T08:31:15Z","timestamp":1277281875000},"page":"219-227","source":"Crossref","is-referenced-by-count":28,"title":["Age adjusting severity scores for Anderson\u2013Fabry Disease"],"prefix":"10.1016","volume":"101","author":[{"given":"D.A.","family":"Hughes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Ramaswami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.-\u00c1.","family":"Barba Romero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Deegan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"922","key":"10.1016\/j.ymgme.2010.06.002_bb0005","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1126\/science.167.3922.1268","article-title":"Fabry's disease: alpha-galactosidase deficiency","volume":"167","author":"Kint","year":"1970","journal-title":"Science"},{"issue":"11","key":"10.1016\/j.ymgme.2010.06.002_bb0010","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","article-title":"Anderson\u2013Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males","volume":"38","author":"MacDermot","year":"2001","journal-title":"J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ymgme.2010.06.002_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."},{"issue":"4","key":"10.1016\/j.ymgme.2010.06.002_bb0020","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1136\/jmg.2005.036327","article-title":"Natural history of Fabry disease in females in the Fabry Outcome Survey","volume":"43","author":"Deegan","year":"2006","journal-title":"J. Med. Genet."},{"issue":"7","key":"10.1016\/j.ymgme.2010.06.002_bb0025","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1023\/A:1012993305223","article-title":"Anderson\u2013Fabry disease: clinical manifestations of disease in female heterozygotes","volume":"24","author":"Whybra","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"issue":"11","key":"10.1016\/j.ymgme.2010.06.002_bb0030","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.38.11.769","article-title":"Anderson\u2013Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females","volume":"38","author":"MacDermot","year":"2001","journal-title":"J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ymgme.2010.06.002_bb0035","doi-asserted-by":"crossref","first-page":"e344","DOI":"10.1542\/peds.2004-1678","article-title":"Pediatric Fabry disease","volume":"115","author":"Ries","year":"2005","journal-title":"Pediatrics"},{"issue":"1","key":"10.1016\/j.ymgme.2010.06.002_bb0040","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1080\/08035250500275022","article-title":"Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey","volume":"95","author":"Ramaswami","year":"2006","journal-title":"Acta Paediatr."},{"issue":"4","key":"10.1016\/j.ymgme.2010.06.002_bb0045","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ymgme.2006.02.013","article-title":"Newborn screening for lysosomal storage disorders","volume":"88","author":"Meikle","year":"2006","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.ymgme.2010.06.002_bb0050","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":"12","key":"10.1016\/j.ymgme.2010.06.002_bb0055","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1161\/01.CIR.0000012626.81324.38","article-title":"Prevalence of Anderson\u2013Fabry disease in male patients with late onset hypertrophic cardiomyopathy","volume":"105","author":"Sachdev","year":"2002","journal-title":"Circulation"},{"issue":"3","key":"10.1016\/j.ymgme.2010.06.002_bb0060","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: detection of undiagnosed hemodialysis patients and identification of a \u201crenal variant\u201d phenotype","volume":"64","author":"Nakao","year":"2003","journal-title":"Kidney Int."},{"issue":"5","key":"10.1016\/j.ymgme.2010.06.002_bb0065","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."},{"issue":"9499","key":"10.1016\/j.ymgme.2010.06.002_bb0070","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1016\/S0140-6736(05)67635-0","article-title":"Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study","volume":"366","author":"Rolfs","year":"2005","journal-title":"Lancet"},{"issue":"12","key":"10.1016\/j.ymgme.2010.06.002_bb0075","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1111\/j.1365-2362.2004.01424.x","article-title":"Fabry disease: overall effects of agalsidase alfa treatment","volume":"34","author":"Beck","year":"2004","journal-title":"Eur. J. Clin. Invest."},{"issue":"3","key":"10.1016\/j.ymgme.2010.06.002_bb0080","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1136\/jmg.2004.025791","article-title":"Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)","volume":"42","author":"Hoffmann","year":"2005","journal-title":"J. Med. Genet."},{"issue":"10","key":"10.1016\/j.ymgme.2010.06.002_bb0085","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1097\/00042737-200410000-00020","article-title":"Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease","volume":"16","author":"Hoffmann","year":"2004","journal-title":"Eur. J. Gastroenterol. Hepatol."},{"issue":"4","key":"10.1016\/j.ymgme.2010.06.002_bb0090","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1023\/B:BOLI.0000037342.59612.69","article-title":"Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease","volume":"27","author":"Dehout","year":"2004","journal-title":"J. Inherit. Metab. Dis."},{"issue":"443","key":"10.1016\/j.ymgme.2010.06.002_bb0095","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1111\/j.1651-2227.2003.tb00214.x","article-title":"Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: preliminary data","volume":"92","author":"Dehout","year":"2003","journal-title":"Acta Paediatr. Suppl."},{"issue":"2","key":"10.1016\/j.ymgme.2010.06.002_bb0100","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.1399-0004.2004.00284.x","article-title":"Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease","volume":"66","author":"Spinelli","year":"2004","journal-title":"Clin. Genet."},{"issue":"2","key":"10.1016\/j.ymgme.2010.06.002_bb0105","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1136\/hrt.2006.104026","article-title":"Effects of enzyme replacement therapy on the cardiomyopathy of Anderson\u2013Fabry disease: a randomized, double-blind, placebo-controlled clinical trial of agalsidase-alfa","volume":"94","author":"Hughes","year":"2008","journal-title":"Heart"},{"issue":"1","key":"10.1016\/j.ymgme.2010.06.002_bb0110","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1651-2227.2007.00029.x","article-title":"Enzyme replacement therapy with agalsidase alfa in children with Fabry disease","volume":"96","author":"Ramaswami","year":"2007","journal-title":"Acta Paediatr."},{"issue":"3","key":"10.1016\/j.ymgme.2010.06.002_bb0115","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1542\/peds.2005-2895","article-title":"Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease","volume":"118","author":"Ries","year":"2006","journal-title":"Pediatrics"},{"issue":"1","key":"10.1016\/j.ymgme.2010.06.002_bb0120","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"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":"2","key":"10.1016\/j.ymgme.2010.06.002_bb0125","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."},{"issue":"4","key":"10.1016\/j.ymgme.2010.06.002_bb0130","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.jpeds.2007.09.007","article-title":"Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease","volume":"152","author":"Wraith","year":"2008","journal-title":"J. Pediatr."},{"issue":"21","key":"10.1016\/j.ymgme.2010.06.002_bb0135","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":"3","key":"10.1016\/j.ymgme.2010.06.002_bb0140","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1086\/318809","article-title":"A phase 1\/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies","volume":"68","author":"Eng","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2010.06.002_bb0145","series-title":"Guidelines for the Diagnosis and Management of Anderson\u2013Fabry Disease","author":"Hughes","year":"2005"},{"issue":"9","key":"10.1016\/j.ymgme.2010.06.002_bb0150","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1097\/01.gim.0000237866.70357.c6","article-title":"Fabry disease: guidelines for the evaluation and management of multi-organ system involvement","volume":"8","author":"Eng","year":"2006","journal-title":"Genet. Med."},{"issue":"20","key":"10.1016\/j.ymgme.2010.06.002_bb0155","doi-asserted-by":"crossref","DOI":"10.3310\/hta10200","article-title":"A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type 1","volume":"10","author":"Connock","year":"2006","journal-title":"Health Technol. Assess."},{"issue":"4","key":"10.1016\/j.ymgme.2010.06.002_bb0160","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1399-0004.2004.00219.x","article-title":"The Mainz Severity Score Index: a new instrument for quantifying the Anderson\u2013Fabry disease phenotype, and the response of patients to enzyme replacement therapy","volume":"65","author":"Whybra","year":"2004","journal-title":"Clin. Genet."},{"issue":"457","key":"10.1016\/j.ymgme.2010.06.002_bb0165","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1651-2227.2008.00649.x","article-title":"Early therapeutic intervention in females with Fabry disease?","volume":"97","author":"Hughes","year":"2008","journal-title":"Acta Paediatr. Suppl."},{"issue":"3","key":"10.1016\/j.ymgme.2010.06.002_bb0170","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.ymgme.2009.10.178","article-title":"A validated disease severity scoring system for Fabry disease","volume":"99","author":"Giannini","year":"2010","journal-title":"Mol. Genet. Metab."},{"issue":"447","key":"10.1016\/j.ymgme.2010.06.002_bb0175","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1080\/08035320510031045","article-title":"Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey","volume":"94","author":"Schaefer","year":"2005","journal-title":"Acta Paediatr. Suppl."},{"issue":"4","key":"10.1016\/j.ymgme.2010.06.002_bb0180","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1007\/s100380170088","article-title":"Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype","volume":"46","author":"Ashley","year":"2001","journal-title":"J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ymgme.2010.06.002_bb0185","first-page":"227","article-title":"Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype\/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes","volume":"48","author":"Ashton-Prolla","year":"2000","journal-title":"J. Investig. Med."},{"issue":"5","key":"10.1016\/j.ymgme.2010.06.002_bb0190","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1002\/(SICI)1096-8628(19990611)84:5<420::AID-AJMG6>3.0.CO;2-Z","article-title":"Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)","volume":"84","author":"Ashton-Prolla","year":"1999","journal-title":"Am. J. Med. Genet."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719210002210?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719210002210?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T05:18:40Z","timestamp":1740201520000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719210002210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10]]},"references-count":38,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["S1096719210002210"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2010.06.002","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2010,10]]}}}