{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T01:07:46Z","timestamp":1781831266658,"version":"3.54.5"},"reference-count":33,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2014,6,1]],"date-time":"2014-06-01T00:00:00Z","timestamp":1401580800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2014,6]]},"DOI":"10.1016\/j.ymgme.2014.03.007","type":"journal-article","created":{"date-parts":[[2014,3,30]],"date-time":"2014-03-30T00:46:02Z","timestamp":1396140362000},"page":"143-147","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":39,"title":["Clinical laboratory studies in Barth Syndrome"],"prefix":"10.1016","volume":"112","author":[{"given":"Hilary J.","family":"Vernon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yana","family":"Sandlers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"McClellan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard I.","family":"Kelley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2014.03.007_bb0005","series-title":"Barth Syndrome Foundation Website","year":"2006"},{"key":"10.1016\/j.ymgme.2014.03.007_bb0010","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/0022-510X(83)90209-5","article-title":"An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes","volume":"62","author":"Barth","year":"1983","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0015","doi-asserted-by":"crossref","first-page":"2726","DOI":"10.1002\/ajmg.a.35609","article-title":"The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study","volume":"158A","author":"Roberts","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2014.03.007_bb0020","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.1320450309","article-title":"Barth syndrome \u2014 clinical features and confirmation of gene localization to distal Xq28","volume":"45","author":"Ades","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0025","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1007\/s00246-012-0258-z","article-title":"Left ventricular noncompaction cardiomyopathy in Barth syndrome: an example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation","volume":"33","author":"Hanke","year":"2012","journal-title":"Pediatr. Cardiol."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0030","doi-asserted-by":"crossref","first-page":"E337","DOI":"10.1542\/peds.2005-2667","article-title":"Cardiac and clinical phenotype in Barth syndrome","volume":"118","author":"Spencer","year":"2006","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2014.03.007_bb0035","first-page":"481","article-title":"Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28","volume":"48","author":"Bolhuis","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0040","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1006\/bbrc.2000.3952","article-title":"Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome","volume":"279","author":"Vreken","year":"2000","journal-title":"Biochem. Biophys. Res Commun."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0045","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1042\/bj3640317","article-title":"Cardiolipin prevents rate-dependent uncoupling and provides osmotic stability in yeast mitochondria","volume":"364","author":"Koshkin","year":"2002","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0050","doi-asserted-by":"crossref","first-page":"2545","DOI":"10.1194\/jlr.M800319-JLR200","article-title":"Cardiolipin and electron transport chain abnormalities in mouse brain tumor mitochondria: lipidomic evidence supporting the Warburg theory of cancer","volume":"49","author":"Kiebish","year":"2008","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0055","doi-asserted-by":"crossref","first-page":"2048","DOI":"10.1016\/j.bbamem.2009.06.007","article-title":"Cardiolipin and mitochondrial carriers","volume":"1788","author":"Klingenberg","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2014.03.007_bb0060","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1007\/s10495-007-0718-8","article-title":"Cardiolipin: setting the beat of apoptosis","volume":"12","author":"Gonzalvez","year":"2007","journal-title":"Apoptosis"},{"key":"10.1016\/j.ymgme.2014.03.007_bb0065","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/labinvest.3700480","article-title":"Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography","volume":"87","author":"Acehan","year":"2007","journal-title":"Lab. Invest."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0070","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.mito.2008.12.001","article-title":"Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria","volume":"9","author":"Acehan","year":"2009","journal-title":"Mitochondrion"},{"issue":"85","key":"10.1016\/j.ymgme.2014.03.007_bb0075","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/labinvest.3700274","article-title":"Characterization of lymphoblast mitochondria from patients with Barth syndrome","author":"Xu","year":"2005","journal-title":"Lab. Investig."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0080","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/0887-8994(93)90046-F","article-title":"Multiple syndromes of 3-methylglutaconic aciduria","volume":"9","author":"Gibson","year":"1993","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0085","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/S0022-3476(05)80289-6","article-title":"X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria","volume":"119","author":"Kelley","year":"1991","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0090","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1111\/j.1651-2227.2004.tb02974.x","article-title":"Barth syndrome without 3-methylglutaconic aciduria","volume":"93","author":"Schmidt","year":"2004","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0095","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1002\/ajmg.a.31653","article-title":"Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes","volume":"143A","author":"Marziliano","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2014.03.007_bb0100","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1373\/clinchem.2007.095711","article-title":"Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome","volume":"54","author":"Kulik","year":"2008","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0105","author":"Gonzalez"},{"key":"10.1016\/j.ymgme.2014.03.007_bb0110","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/1750-1172-8-70","article-title":"Natural history of Barth syndrome: a national cohort study of 22 patients","volume":"8","author":"Rigaud","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0115","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/0009-8981(93)90044-5","article-title":"Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluids by gas chromatography\/mass spectrometry","volume":"220","author":"Kelley","year":"1994","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2014.03.007_bb0120","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1006\/mgme.2001.3170","article-title":"Quantitative determination of plasma c8\u2013c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders","volume":"73","author":"Lagerstedt","year":"2001","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0125","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/1476-511X-10-101","article-title":"Human and great ape red blood cells differ in plasmalogen levels and composition","volume":"10","author":"Moser","year":"2011","journal-title":"Lipids Health Dis."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0130","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/0009-8981(95)06038-4","article-title":"Diagnosis of Smith\u2013Lemli\u2013Opitz syndrome by gas chromatography\/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid, and cultured skin fibroblasts","volume":"236","author":"Kelley","year":"1995","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2014.03.007_bb0135","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.ymgme.2012.01.015","article-title":"Barth syndrome in a female patient","volume":"106","author":"Cosson","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0140","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1086\/302095","article-title":"X chromosome inactivation in carriers of Barth syndrome","volume":"63","author":"Orstavik","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0145","first-page":"A177","article-title":"Correction of neutropenia in Barth syndrome by G-CSF","volume":"57S","author":"Cox","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0150","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.clnu.2008.05.007","article-title":"New indications and controversies in arginine therapy","volume":"27","author":"Coman","year":"2008","journal-title":"Clin. Nutr."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0155","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1139\/O09-186","article-title":"Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndrome","volume":"88","author":"Hauff","year":"2010","journal-title":"Biochem. Cell Biol."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0160","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1038\/ng0496-385","article-title":"A novel X-linked gene, G4.5. (sic) is responsible for Barth syndrome","volume":"12","author":"Bione","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2014.03.007_bb0165","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1006\/bbrc.2000.3952","article-title":"Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome","volume":"279","author":"Vreken","year":"2000","journal-title":"Biochem. Biophys. Res. Commun."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109671921400095X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109671921400095X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,9]],"date-time":"2019-08-09T02:10:25Z","timestamp":1565316625000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S109671921400095X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6]]},"references-count":33,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["S109671921400095X"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2014.03.007","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2014,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical laboratory studies in Barth Syndrome","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2014.03.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}