{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:02Z","timestamp":1790679182851,"version":"4.1.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"3-4","license":[{"start":{"date-parts":[[2012,2,1]],"date-time":"2012-02-01T00:00:00Z","timestamp":1328054400000},"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":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2012,2]]},"DOI":"10.1016\/j.cca.2011.10.023","type":"journal-article","created":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T01:31:41Z","timestamp":1320111101000},"page":"422-427","source":"Crossref","is-referenced-by-count":22,"title":["The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots"],"prefix":"10.1016","volume":"413","author":[{"given":"Chang-Long","family":"Tai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Ying","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiao-Chi","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiang-Chuan","family":"Chiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hung","family":"Chiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeng-Hung","family":"Suen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Min","family":"Kao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Hsiu","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina Jui-Ting","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia-Feng","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang-Chih","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ching-Yuang","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan-Gowth","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Duo","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dau-Ming","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2011.10.023_bb0130","series-title":"The metabolic and molecular bases of inherited disease","first-page":"3733","article-title":"alpha-Galactosidase A deficiency: Fabry disease","author":"Desnick","year":"2001"},{"key":"10.1016\/j.cca.2011.10.023_bb0010","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"10.1016\/j.cca.2011.10.023_bb0015","doi-asserted-by":"crossref","first-page":"2399","DOI":"10.1016\/j.jacc.2007.06.062","article-title":"Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy","volume":"50","author":"Monserrat","year":"2007","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.cca.2011.10.023_bb0020","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.cca.2011.10.023_bb0025","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"},{"key":"10.1016\/j.cca.2011.10.023_bb0030","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1056\/NEJM199102073240607","article-title":"An atypical variant of Fabry's disease with manifestations confined to the myocardium","volume":"324","author":"von Scheidt","year":"1991","journal-title":"N Engl J Med"},{"key":"10.1016\/j.cca.2011.10.023_bb0035","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1097\/01.ASN.0000124671.61963.1E","article-title":"Results of a nationwide screening for Anderson\u2013Fabry disease among dialysis patients","volume":"15","author":"Kotanko","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.cca.2011.10.023_bb0040","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"},{"key":"10.1016\/j.cca.2011.10.023_bb0045","doi-asserted-by":"crossref","first-page":"281","DOI":"10.5414\/CNP64281","article-title":"Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients","volume":"64","author":"Tanaka","year":"2005","journal-title":"Clin Nephrol"},{"key":"10.1016\/j.cca.2011.10.023_bb0050","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"},{"key":"10.1016\/j.cca.2011.10.023_bb0055","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.cca.2011.10.023_bb0060","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1373\/clinchem.2008.109744","article-title":"High-resolution melting curve analysis of genomic and whole-genome amplified DNA","volume":"54","author":"Cho","year":"2008","journal-title":"Clin Chem"},{"key":"10.1016\/j.cca.2011.10.023_bb0065","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.yexmp.2008.03.012","article-title":"High resolution melting applications for clinical laboratory medicine","volume":"85","author":"Erali","year":"2008","journal-title":"Exp Mol Pathol"},{"key":"10.1016\/j.cca.2011.10.023_bb0070","doi-asserted-by":"crossref","first-page":"597","DOI":"10.2217\/14622416.8.6.597","article-title":"High-resolution DNA melting analysis for simple and efficient molecular diagnostics","volume":"8","author":"Reed","year":"2007","journal-title":"Pharmacogenomics"},{"key":"10.1016\/j.cca.2011.10.023_bb0075","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1002\/humu.21019","article-title":"High-resolution melting analysis (HRMA): more than just sequence variant screening","volume":"30","author":"Vossen","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2011.10.023_bb0080","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<328::AID-HUMU11>3.0.CO;2-N","article-title":"Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease","volume":"11","author":"Chen","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2011.10.023_bb0085","first-page":"124","article-title":"Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease","volume":"127","author":"Lin","year":"2010","journal-title":"Hum Genet"},{"key":"10.1016\/j.cca.2011.10.023_bb0090","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1007\/s10545-010-9166-7","article-title":"Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G\u2013>A)","volume":"33","author":"Lin","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.cca.2011.10.023_bb0095","first-page":"122","article-title":"Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease","volume":"127","author":"Lin","year":"2010","journal-title":"Hum Genet"},{"key":"10.1016\/j.cca.2011.10.023_bb0100","first-page":"122","article-title":"Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease","volume":"127","author":"Niu","year":"2010","journal-title":"Hum Genet"},{"key":"10.1016\/j.cca.2011.10.023_bb0105","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1080\/00015550410024643","article-title":"A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease","volume":"84","author":"Wu","year":"2004","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.cca.2011.10.023_bb0110","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1002\/humu.20951","article-title":"High-resolution DNA melting analysis: advancements and limitations","volume":"30","author":"Wittwer","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2011.10.023_bb0115","series-title":"Molecular diagnostics","first-page":"229","article-title":"High resolution melting curve analysis for molecular diagnostics","author":"Farrar","year":"2009"},{"key":"10.1016\/j.cca.2011.10.023_bb0120","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1373\/49.3.396","article-title":"Amplicon melting analysis with labeled primers: a closed-tube method for differentiating homozygotes and heterozygotes","volume":"49","author":"Gundry","year":"2003","journal-title":"Clin Chem"},{"key":"10.1016\/j.cca.2011.10.023_bb0125","doi-asserted-by":"crossref","first-page":"284","DOI":"10.2353\/jmoldx.2007.060136","article-title":"Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting","volume":"9","author":"Seipp","year":"2007","journal-title":"J Mol Diagn"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898111005845?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898111005845?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,29]],"date-time":"2018-11-29T01:57:56Z","timestamp":1543456676000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898111005845"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2]]},"references-count":25,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["S0009898111005845"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2011.10.023","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2012,2]]}}}