{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T10:25:34Z","timestamp":1751538334129,"version":"3.40.5"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0666_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To describe the metabolic and endocrine features of a patient with Barth syndrome who showed evidence of growth hormone resistance.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0666_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A male proband deteriorated rapidly with lactic acidosis after a circumcision at age three weeks and was found to have severe dilated cardiomyopathy. A cardiomyopathy gene panel led to the diagnosis of <jats:italic>TAZ<\/jats:italic>-deficiency Barth syndrome. He subsequently experienced hypotonia and gross motor delay, feeding difficulties for the first four years, constitutional growth delay and one episode of ketotic hypoglycaemia. Cardiomyopathy resolved on oral anti-failure therapy by age three years. He had a hormonal pattern of growth hormone resistance, and growth hormone treatment was considered, however height velocity improved spontaneously after age 3\u00bd years. He also had biochemical primary hypothyroidism.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0666_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>With careful metabolic management with <jats:sc>l<\/jats:sc>-arginine supplementation, overnight corn starch, and a prescribed exercise program, our patient\u2019s strength, endurance, level of physical activity and body composition improved significantly by age six years.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0666","type":"journal-article","created":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T20:04:08Z","timestamp":1618344248000},"page":"951-955","source":"Crossref","is-referenced-by-count":2,"title":["Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report"],"prefix":"10.1515","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7063-6667","authenticated-orcid":false,"given":"Joel A.","family":"Vanderniet","sequence":"first","affiliation":[{"name":"Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead , Sydney , NSW , Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul Z.","family":"Benitez-Aguirre","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead , Sydney , NSW , Australia"},{"name":"Discipline of Paediatrics and Child Health, University of Sydney , Sydney , NSW , Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn R.","family":"Broderick","sequence":"additional","affiliation":[{"name":"Children's Hospital Institute of Sports Medicine, The Children's Hospital at Westmead , Sydney , NSW , Australia"},{"name":"School of Medical Sciences, Faculty of Medicine, University of New South Wales , Sydney , NSW , Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard I.","family":"Kelley","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics, Boston Children's Hospital , Boston , MA , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanti","family":"Balasubramaniam","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Disorders Service, The Children's Hospital at Westmead , Sydney , NSW , Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,4,13]]},"reference":[{"key":"2023040101233466554_j_jpem-2020-0666_ref_001","doi-asserted-by":"crossref","unstructured":"Clarke, S, Bowron, A, Gonzalez, I, Groves, S, Newbury-Ecob, R, Clayton, N, et al.. Barth syndrome. Orphanet J Rare Dis 2013;8:23. https:\/\/doi.org\/10.1186\/1750-1172-8-23.","DOI":"10.1186\/1750-1172-8-23"},{"key":"2023040101233466554_j_jpem-2020-0666_ref_002","doi-asserted-by":"crossref","unstructured":"Schlame, M, Kelley, R, Feigenbaum, A, Towbin, J, Heerdt, P, Schieble, T, et al.. Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol 2003;42:1994\u20139. https:\/\/doi.org\/10.1016\/j.jacc.2003.06.015.","DOI":"10.1016\/j.jacc.2003.06.015"},{"key":"2023040101233466554_j_jpem-2020-0666_ref_003","doi-asserted-by":"crossref","unstructured":"Thompson, WR, DeCroes, B, McClellan, R, Rubens, J, Vaz, FM, Kristaponis, K, et al.. New targets for monitoring and therapy in Barth syndrome. 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