{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T21:59:07Z","timestamp":1785362347580,"version":"3.55.0"},"reference-count":11,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T00:00:00Z","timestamp":1775606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jhltopen.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["JHLT Open"],"published-print":{"date-parts":[[2026,8]]},"DOI":"10.1016\/j.jhlto.2026.100562","type":"journal-article","created":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T09:20:29Z","timestamp":1775899229000},"page":"100562","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Mosaic pathogenic PRKAG2 variant and pathologic diagnosis of glycogen storage disease in an infant with negative whole-genome sequencing"],"prefix":"10.1016","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-7145-3248","authenticated-orcid":false,"given":"Vinicius","family":"Cabido","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Halnon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlin","family":"Touma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory A.","family":"Fishbein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Husain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jhlto.2026.100562_bib1","doi-asserted-by":"crossref","first-page":"H248","DOI":"10.1152\/ajpheart.00316.2017","article-title":"The PRKAG2 gene and hypertrophic cardiomyopathy: an energetically imbalanced relationship","volume":"313","author":"Calore","year":"2017","journal-title":"Am J Physiol Heart Circulatory Physiol"},{"key":"10.1016\/j.jhlto.2026.100562_bib2","first-page":"1","article-title":"Cardiac manifestations of PRKAG2 mutation","volume":"19","author":"Banankhah","year":"2018","journal-title":"BMC Med\u00a0Genet"},{"key":"10.1016\/j.jhlto.2026.100562_bib3","article-title":"Clinical spectrum of PRKAG2 syndrome","volume":"9","author":"Porto","year":"2016","journal-title":"Circ\u00a0Arrhythm\u00a0Electrophysiol"},{"key":"10.1016\/j.jhlto.2026.100562_bib4","first-page":"229","article-title":"Histochemical approach of cryobiopsy for glycogen distribution in living mouse livers under fasting and local circulation loss conditions","volume":"133","author":"Saitoh","year":"2010","journal-title":"Histochem\u00a0Cell Biol"},{"key":"10.1016\/j.jhlto.2026.100562_bib5","first-page":"991","article-title":"Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse model","volume":"55","author":"Taksir","year":"2007","journal-title":"J\u00a0Histochem\u00a0Cytochem"},{"key":"10.1016\/j.jhlto.2026.100562_bib6","first-page":"963","article-title":"Association of AMP-activated protein kinase subunits with glycogen particles as revealed in situ by immunoelectron microscopy","volume":"57","author":"Bendayan","year":"2009","journal-title":"J\u00a0Histochem\u00a0Cytochem"},{"key":"10.1016\/j.jhlto.2026.100562_bib7","series-title":"Electron Microscopy: Methods and Protocols","first-page":"19","article-title":"Processing biological tissues for ultrastructural study","author":"Mascorro","year":"2007"},{"key":"10.1016\/j.jhlto.2026.100562_bib8","first-page":"186","article-title":"Clinical features and natural history of PRKAG2 variant cardiac glycogenosis","volume":"76","author":"Lopez-Sainz","year":"2020","journal-title":"J\u00a0Am\u00a0Coll\u00a0Cardiol"},{"key":"10.1016\/j.jhlto.2026.100562_bib9","doi-asserted-by":"crossref","first-page":"2136","DOI":"10.3390\/life12122136","article-title":"Intrafamilial phenotypical variability linked to PRKAG2 mutation\u2014family case report and review of the literature","volume":"12","author":"Marcu","year":"2022","journal-title":"Life"},{"key":"10.1016\/j.jhlto.2026.100562_bib10","first-page":"14","article-title":"Echocardiographic characteristics of PRKAG2 syndrome: a research using three-dimensional speckle tracking echocardiography compared with sarcomeric hypertrophic cardiomyopathy","volume":"20","author":"Tang","year":"2022","journal-title":"Cardiovasc\u00a0Ultrasound"},{"key":"10.1016\/j.jhlto.2026.100562_bib11","first-page":"89","article-title":"Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations","volume":"17","author":"P\u00f6yh\u00f6nen","year":"2015","journal-title":"J\u00a0Cardiovasc\u00a0Magn\u00a0Reson"}],"container-title":["JHLT Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2950133426000832?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2950133426000832?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T21:20:22Z","timestamp":1785360022000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2950133426000832"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":11,"alternative-id":["S2950133426000832"],"URL":"https:\/\/doi.org\/10.1016\/j.jhlto.2026.100562","relation":{},"ISSN":["2950-1334"],"issn-type":[{"value":"2950-1334","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mosaic pathogenic PRKAG2 variant and pathologic diagnosis of glycogen storage disease in an infant with negative whole-genome sequencing","name":"articletitle","label":"Article Title"},{"value":"JHLT Open","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jhlto.2026.100562","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Author(s). Published by Elsevier Inc. on behalf of International Society for Heart and Lung Transplantation.","name":"copyright","label":"Copyright"}],"article-number":"100562"}}