{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T15:45:55Z","timestamp":1793202355441,"version":"4.5.0"},"reference-count":24,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2015,8,1]],"date-time":"2015-08-01T00:00:00Z","timestamp":1438387200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,8,1]],"date-time":"2015-08-01T00:00:00Z","timestamp":1438387200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000},"content-version":"vor","delay-in-days":366,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["25460614"],"award-info":[{"award-number":["25460614"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2015,8]]},"DOI":"10.1016\/j.jjcc.2014.09.011","type":"journal-article","created":{"date-parts":[[2014,11,17]],"date-time":"2014-11-17T10:02:27Z","timestamp":1416218547000},"page":"168-174","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes"],"prefix":"10.1016","volume":"66","author":[{"given":"Yoko","family":"Hashida","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taizo","family":"Wada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takekatsu","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunio","family":"Ohta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihito","family":"Kasahara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Yachie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jjcc.2014.09.011_bib0005","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1212\/WNL.31.1.51","article-title":"Lysosomal glycogen storage disease with normal acid maltase","volume":"31","author":"Danon","year":"1981","journal-title":"Neurology"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0010","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/35022604","article-title":"Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)","volume":"406","author":"Nishino","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0015","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1083\/jcb.200412022","article-title":"Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice","volume":"169","author":"Komatsu","year":"2005","journal-title":"J Cell Biol"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0020","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1038\/nm1574","article-title":"The role of autophagy in cardiomyocytes in the basal state and in response to hemodynamic stress","volume":"13","author":"Nakai","year":"2007","journal-title":"Nat Med"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0025","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1038\/35022595","article-title":"Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice","volume":"406","author":"Tanaka","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0030","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1212\/WNL.58.12.1773","article-title":"Clinicopathological features of genetically confirmed Danon disease","volume":"58","author":"Sugie","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0035","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.amjcard.2011.09.024","article-title":"Sudden death associated with Danon disease in women","volume":"109","author":"Miani","year":"2012","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0040","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.jacc.2009.11.019","article-title":"Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women","volume":"55","author":"Toib","year":"2010","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0045","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/mus.20471","article-title":"Novel LAMP-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease","volume":"33","author":"Echaniz-Laguna","year":"2006","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0050","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1001\/jama.2009.371","article-title":"Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy","volume":"301","author":"Maron","year":"2009","journal-title":"JAMA"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0055","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1002\/mus.21614","article-title":"A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease","volume":"41","author":"Kim","year":"2010","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0060","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/ana.10235","article-title":"Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)","volume":"52","author":"Takahashi","year":"2002","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0065","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1056\/NEJMoa033349","article-title":"Glycogen storage diseases presenting as hypertrophic cardiomyopathy","volume":"352","author":"Arad","year":"2005","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0070","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1161\/CIRCULATIONAHA.105.546481","article-title":"Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children","volume":"112","author":"Yang","year":"2005","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0075","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.gene.2012.02.004","article-title":"Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency","volume":"498","author":"Majer","year":"2012","journal-title":"Gene"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0080","doi-asserted-by":"crossref","first-page":"S115","DOI":"10.1007\/s10545-009-1097-9","article-title":"Danon disease: case report and detection of a new mutation","volume":"32","author":"Regelsberger","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0085","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.2353\/ajpath.2006.050646","article-title":"Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease","volume":"168","author":"Fanin","year":"2006","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0090","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/S0962-8924(03)00005-9","article-title":"At the acidic edge: emerging functions for lysosomal membrane proteins","volume":"13","author":"Eskelinen","year":"2003","journal-title":"Trends Cell Biol"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0095","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1161\/CIRCGENETICS.109.901785","article-title":"LAMP2 microdeletions in patients with Danon disease","volume":"3","author":"Yang","year":"2010","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0100","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1056\/NEJMra0902923","article-title":"Inherited cardiomyopathies","volume":"364","author":"Watkins","year":"2011","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0105","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1056\/NEJMoa075463","article-title":"Shared genetic causes of cardiac hypertrophy in children and adults","volume":"358","author":"Morita","year":"2008","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0110","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1161\/CIRCGENETICS.108.821314","article-title":"Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy","volume":"2","author":"Kaski","year":"2009","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0115","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1161\/01.CIR.94.8.2021","article-title":"Clinical approach to genetic cardiomyopathy in children","volume":"94","author":"Schwartz","year":"1996","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2014.09.011_bib0120","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1161\/CIRCULATIONAHA.106.621185","article-title":"Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children","volume":"115","author":"Colan","year":"2007","journal-title":"Circulation"}],"container-title":["Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0914508714002871?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0914508714002871?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T12:54:23Z","timestamp":1760273663000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0914508714002871"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["S0914508714002871"],"URL":"https:\/\/doi.org\/10.1016\/j.jjcc.2014.09.011","relation":{},"ISSN":["0914-5087"],"issn-type":[{"value":"0914-5087","type":"print"}],"subject":[],"published":{"date-parts":[[2015,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes","name":"articletitle","label":"Article Title"},{"value":"Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jjcc.2014.09.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Japanese College of Cardiology. Published by Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}