{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:42:55Z","timestamp":1791250975128,"version":"4.1.0"},"reference-count":76,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,8,15]],"date-time":"2021-08-15T00:00:00Z","timestamp":1628985600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Barth Syndrome is a rare X\u2010linked disorder caused by pathogenic variants in the gene\n                    <jats:italic>TAFAZZIN<\/jats:italic>\n                    , which encodes for an enzyme involved in the remodeling of cardiolipin, a phospholipid primarily localized to the inner mitochondrial membrane. Barth Syndrome is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities, among other features. In this review, we will discuss the clinical presentation and natural history of Barth Syndrome, review key features of this disease, and introduce less common clinical associations. Recognition and understanding of the natural history of Barth Syndrome are important for ongoing patient management and developing endpoints for the demonstration of efficacy of new and emerging therapies.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12422","type":"journal-article","created":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T03:19:12Z","timestamp":1628219952000},"page":"7-16","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":70,"title":["Clinical presentation and natural history of Barth Syndrome: An overview"],"prefix":"10.1002","volume":"45","author":[{"given":"Carolyn","family":"Taylor","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology, Children's Hospital Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily 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