{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T11:27:48Z","timestamp":1768735668074,"version":"3.49.0"},"reference-count":24,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,7,1]],"date-time":"2013-07-01T00:00:00Z","timestamp":1372636800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,1]],"date-time":"2013-07-01T00:00:00Z","timestamp":1372636800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"name":"Ministry of Health, Labor and Welfare of Japan"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","journal-of-cardiology.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Cardiology"],"published-print":{"date-parts":[[2013,7]]},"DOI":"10.1016\/j.jjcc.2013.02.012","type":"journal-article","created":{"date-parts":[[2013,4,19]],"date-time":"2013-04-19T12:02:03Z","timestamp":1366372923000},"page":"63-69","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P"],"prefix":"10.1016","volume":"62","author":[{"given":"Motoki","family":"Fukutomi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuaki","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Uchinoumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashi","family":"Kanemoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumiaki","family":"Nakao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jutaro","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiaki","family":"Kamei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiro","family":"Takenaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Fujii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jjcc.2013.02.012_bib0005","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"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0010","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1007\/s00431-003-1299-3","article-title":"The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents","volume":"162","author":"Ries","year":"2003","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0015","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1007\/s00431-009-0937-9","article-title":"Fabry disease in children and the effects of enzyme replacement treatment","volume":"168","author":"Pintos-Morell","year":"2009","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0020","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/j.1445-5994.2007.01366.x","article-title":"Neurology of Fabry disease","volume":"37","author":"Low","year":"2007","journal-title":"Intern Med J"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0025","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1097\/00005792-200203000-00003","article-title":"Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course","volume":"81","author":"Branton","year":"2002","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0030","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1136\/jmg.2008.065904","article-title":"Natural course of Fabry disease: changing pattern of causes of death in FOS \u2013 Fabry Outcome Survey","volume":"46","author":"Mehta","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0035","series-title":"Fabry disease: perspectives from 5 years of FOS","author":"Mehta","year":"2006"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0040","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1002\/humu.9327","article-title":"Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease","volume":"25","author":"Schafer","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0045","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1053\/j.ajkd.2008.12.034","article-title":"Collaborators developing the Japanese equation for estimated GFR. Revised equations for estimated GFR from serum creatinine in Japan","volume":"53","author":"Matsuo","year":"2009","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0050","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.jjcc.2013.02.012_bib0055","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/humu.9520","article-title":"Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone","volume":"29","author":"Shimotori","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0060","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1161\/01.CIR.58.6.1072","article-title":"Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements","volume":"58","author":"Sahn","year":"1978","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0065","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.jjcc.2010.12.004","article-title":"Identification of novel mutations in the alpha-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low alpha-galactosidase A activity","volume":"57","author":"Yoshimitsu","year":"2011","journal-title":"J Cardiol"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0070","doi-asserted-by":"crossref","first-page":"185","DOI":"10.5414\/CNP61185","article-title":"A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders","volume":"61","author":"Maki","year":"2004","journal-title":"Clin Nephrol"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0075","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1093\/hmg\/3.6.1019","article-title":"A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease","volume":"3","author":"Meaney","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0080","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/hrt.68.9.323","article-title":"Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system","volume":"68","author":"Ikari","year":"1992","journal-title":"Br Heart J"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0085","doi-asserted-by":"crossref","first-page":"e2","DOI":"10.1136\/heart.89.1.e2","article-title":"Sisters with atypical Fabry's disease with complete atrioventricular block","volume":"89","author":"Doi","year":"2003","journal-title":"Heart"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0090","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.carpath.2009.10.003","article-title":"The heart in Fabry's disease","volume":"20","author":"Sheppard","year":"2011","journal-title":"Cardiovasc Pathol"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0095","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human alpha-galactosidase A \u2013 replacement therapy in Fabry's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0100","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 randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa","volume":"94","author":"Hughes","year":"2008","journal-title":"Heart"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0105","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1186\/1750-1172-7-91","article-title":"Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies","volume":"7","author":"Germain","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0110","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.jjcc.2010.08.003","article-title":"Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease","volume":"57","author":"Lee","year":"2011","journal-title":"J Cardiol"},{"key":"10.1016\/j.jjcc.2013.02.012_bib0115","doi-asserted-by":"crossref","first-page":"77","DOI":"10.7326\/0003-4819-146-2-200701160-00148","article-title":"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.jjcc.2013.02.012_bib0120","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"}],"container-title":["Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0914508713000890?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0914508713000890?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T12:50:52Z","timestamp":1760273452000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0914508713000890"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["S0914508713000890"],"URL":"https:\/\/doi.org\/10.1016\/j.jjcc.2013.02.012","relation":{},"ISSN":["0914-5087"],"issn-type":[{"value":"0914-5087","type":"print"}],"subject":[],"published":{"date-parts":[[2013,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P","name":"articletitle","label":"Article Title"},{"value":"Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jjcc.2013.02.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Japanese College of Cardiology. Published by Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}