{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T04:01:18Z","timestamp":1781236878013,"version":"3.54.1"},"reference-count":27,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"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":[[2017,1]]},"DOI":"10.1016\/j.jjcc.2016.05.014","type":"journal-article","created":{"date-parts":[[2016,8,23]],"date-time":"2016-08-23T20:43:02Z","timestamp":1471984982000},"page":"302-307","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":32,"title":["Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy"],"prefix":"10.1016","volume":"69","author":[{"given":"Toru","family":"Kubo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Ochi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Baba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayoshi","family":"Hirota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsutoshi","family":"Tanioka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naohito","family":"Yamasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Yoshimitsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Higuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiro","family":"Takenaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimiko","family":"Nakajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadayasu","family":"Togawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Tsukimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigetoshi","family":"Sano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuwa","family":"Tei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Sakuraba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Kitaoka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jjcc.2016.05.014_bib0140","doi-asserted-by":"crossref","first-page":"338","DOI":"10.7326\/0003-4819-138-4-200302180-00014","article-title":"Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy","volume":"138","author":"Desnick","year":"2003","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0145","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.jjcc.2016.05.014_bib0150","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.2016.05.014_bib0155","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jjcc.2007.12.001","article-title":"Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study","volume":"51","author":"Takenaka","year":"2008","journal-title":"J Cardiol"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0160","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.2016.05.014_bib0165","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":"Schiffman","year":"2001","journal-title":"JAMA"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0170","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1161\/01.CIR.0000091253.71282.04","article-title":"Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study","volume":"108","author":"Weidmann","year":"2003","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0175","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ymgme.2010.03.020","article-title":"Plasma globotriaosylsphingosine as a biomarker of Fabry disease","volume":"100","author":"Togawa","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0180","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1093\/hmg\/3.10.1795","article-title":"Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene","volume":"3","author":"Eng","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0185","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"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0190","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/humu.20144","article-title":"Detection of alpha-galactosidase A mutations causing Fabry disease by denaturing high performance liquid chromatography","volume":"25","author":"Shabbeer","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0195","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1136\/heartjnl-2013-305157","article-title":"Repeated heart failure in a 74-year-old man with left ventricular hypertrophy","volume":"100","author":"Ochi","year":"2014","journal-title":"Heart"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0200","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1086\/339431","article-title":"Alternative splicing in the alpha-galactosidase A gene: increase exon inclusion results in the Fabry cardiac phenotype","volume":"70","author":"Ishii","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0205","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1186\/s13023-014-0111-y","article-title":"Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)","volume":"9","author":"Liu","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0210","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1161\/01.CIR.0000012626.81324.38","article-title":"Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy","volume":"105","author":"Sachdev","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0215","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1161\/01.CIR.0000139847.74101.03","article-title":"Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy","volume":"110","author":"Chimenti","year":"2004","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0220","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.jjcc.2016.05.014_bib0225","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1136\/hrt.2010.200188","article-title":"Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study","volume":"97","author":"Hagege","year":"2011","journal-title":"Heart"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0230","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2013-003146","article-title":"Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)","volume":"3","author":"Lin","year":"2013","journal-title":"BMJ Open"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0235","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1136\/hrt.2004.054015","article-title":"Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alfa galactosidase A","volume":"92","author":"Elliott","year":"2006","journal-title":"Heart"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0240","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jjcc.2013.10.005","article-title":"Subendocardial ischemia in hypertrophic cardiomyopathy","volume":"63","author":"Kawasaki","year":"2014","journal-title":"J Cardiol"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0245","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/S0002-8703(77)80064-1","article-title":"Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease","volume":"93","author":"Mehta","year":"1997","journal-title":"Am Heart J"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0250","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/0002-9149(94)90106-6","article-title":"Electrophysiologic findings in Fabry's disease with a short PR interval","volume":"74","author":"Pochis","year":"1994","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0255","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.amjcard.2009.10.056","article-title":"PQ interval in patients with Fabry disease","volume":"105","author":"Namdar","year":"2010","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0260","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1007\/s10545-012-9540-8","article-title":"Cross-sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease","volume":"36","author":"Niemann","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jjcc.2016.05.014_bib0265","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1161\/CIRCULATIONAHA.108.794529","article-title":"Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment","volume":"119","author":"Weidemann","year":"2009","journal-title":"Circulation"},{"issue":"5","key":"10.1016\/j.jjcc.2016.05.014_bib0270","doi-asserted-by":"crossref","first-page":"e0127048","DOI":"10.1371\/journal.pone.0127048","article-title":"Nano-LC-MS\/MS for quantification of lyso-Gb3 and its analogues reveals a useful biomarker for Fabry disease","volume":"10","author":"Sueoka","year":"2015","journal-title":"PLoS One"}],"container-title":["Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0914508716301046?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0914508716301046?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T13:00:19Z","timestamp":1760274019000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0914508716301046"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["S0914508716301046"],"URL":"https:\/\/doi.org\/10.1016\/j.jjcc.2016.05.014","relation":{},"ISSN":["0914-5087"],"issn-type":[{"value":"0914-5087","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jjcc.2016.05.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Author(s). Published by Elsevier Ltd on behalf of Japanese College of Cardiology.","name":"copyright","label":"Copyright"}]}}