{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T21:58:03Z","timestamp":1747173483541,"version":"3.40.5"},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"8","license":[{"start":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T00:00:00Z","timestamp":1672876800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Danon disease is a rare and fatal disease caused by a mutation in the lysosome-associated membrane protein 2 gene. Impaired intracellular autophagy causes lysosomal vacuoles to accumulate mainly in myocardial and skeletal muscle cells, leading to hypertrophic cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability. Two distinct childhood presentations of Danon disease are described in this report.<\/jats:p>","DOI":"10.1017\/s1047951122004164","type":"journal-article","created":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T09:53:40Z","timestamp":1672912420000},"page":"1448-1450","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease"],"prefix":"10.1017","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5501-6905","authenticated-orcid":false,"given":"Hasan","family":"T\u00fcrkmen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7747-4859","authenticated-orcid":false,"given":"Fahrettin","family":"Uysal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem Mehtap","family":"Bostan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2023,1,5]]},"reference":[{"key":"S1047951122004164_ref5","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-872844"},{"key":"S1047951122004164_ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2019.01.020"},{"key":"S1047951122004164_ref3","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0479-y"},{"key":"S1047951122004164_ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcmg.2020.08.011"},{"key":"S1047951122004164_ref1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.1.51"},{"key":"S1047951122004164_ref8","doi-asserted-by":"publisher","DOI":"10.1111\/jce.14049"},{"key":"S1047951122004164_ref6","first-page":"660","article-title":"Clinical profile of cardiac involvement in Danon disease: A multicenter European registry","volume":"6","author":"Lotan","year":"2020","journal-title":"Circ Genomic Precis Med"},{"key":"S1047951122004164_ref4","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31820ad795"},{"key":"S1047951122004164_ref2","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12587"},{"key":"S1047951122004164_ref10","first-page":"25","article-title":"AHA\/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy","volume":"142","author":"Ommen","year":"2020","journal-title":"Circulation"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951122004164","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T09:35:51Z","timestamp":1711445751000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951122004164\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,5]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["S1047951122004164"],"URL":"https:\/\/doi.org\/10.1017\/s1047951122004164","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"type":"print","value":"1047-9511"},{"type":"electronic","value":"1467-1107"}],"subject":[],"published":{"date-parts":[[2023,1,5]]},"assertion":[{"value":"\u00a9 The Author(s), 2023. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http:\/\/creativecommons.org\/licenses\/by\/4.0\/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}