{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T05:31:41Z","timestamp":1738042301561,"version":"3.33.0"},"reference-count":12,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T00:00:00Z","timestamp":1700611200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Danon disease is a rare X-linked disorder caused by deficiency of the lysosome-associated membrane protein-2. We report a case of hypertrophic obstructive cardiomyopathy secondary to a novel mutation in the lysosome-associated membrane protein-2 gene in a 10-year-old male adolescent. We performed a modified extended Morrow procedure to minimise the risk of death and improve the patient\u2019s quality of life. The patient did not have exertional dyspnoea, and auscultation did not reveal a cardiac murmur at 1-year follow-up.<\/jats:p>","DOI":"10.1017\/s1047951123003815","type":"journal-article","created":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T07:18:02Z","timestamp":1700637482000},"page":"201-204","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["Paediatric hypertrophic cardiomyopathy secondary to Danon disease"],"prefix":"10.1017","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9377-523X","authenticated-orcid":false,"given":"Kai","family":"Tang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayi","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoxi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuiyun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2023,11,22]]},"reference":[{"key":"S1047951123003815_ref11","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1242\/jcs.184770","article-title":"Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy","volume":"129","author":"Rowland","year":"2016","journal-title":"J Cell Sci"},{"key":"S1047951123003815_ref12","doi-asserted-by":"publisher","DOI":"10.1038\/35022595"},{"key":"S1047951123003815_ref4","doi-asserted-by":"publisher","DOI":"10.1038\/35022604"},{"key":"S1047951123003815_ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1097-9"},{"key":"S1047951123003815_ref2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.115.019847"},{"key":"S1047951123003815_ref8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa033349"},{"key":"S1047951123003815_ref9","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Taylor","year":"2020"},{"key":"S1047951123003815_ref10","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1161\/CIR.0b013e318223e230","article-title":"2011 ACCF\/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American college of cardiology foundation\/American heart association task force on practice guidelines","volume":"124","author":"Bernard","year":"2011","journal-title":"Circulation"},{"key":"S1047951123003815_ref1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000034170.83171.0B"},{"key":"S1047951123003815_ref7","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21252"},{"key":"S1047951123003815_ref5","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12587"},{"key":"S1047951123003815_ref3","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.12.1773"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951123003815","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T12:49:27Z","timestamp":1737982167000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951123003815\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,22]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["S1047951123003815"],"URL":"https:\/\/doi.org\/10.1017\/s1047951123003815","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"type":"print","value":"1047-9511"},{"type":"electronic","value":"1467-1107"}],"subject":[],"published":{"date-parts":[[2023,11,22]]},"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"}}]}}