{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T00:33:33Z","timestamp":1767141213966,"version":"build-2238731810"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,8,12]],"date-time":"2014-08-12T00:00:00Z","timestamp":1407801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Barth syndrome (BTHS) is an X\u2010linked disorder characterised by cardiac and skeletal myopathy, growth delay, neutropenia and 3\u2010methylglutaconic aciduria (3\u2010MGCA). Patients have\n                    <jats:italic>TAZ<\/jats:italic>\n                    gene mutations which affect metabolism of cardiolipin, resulting in low tetralinoleoyl cardiolipin (CL\n                    <jats:sub>4<\/jats:sub>\n                    ), an increase in its precursor, monolysocardiolipin (MLCL), and an increased MLCL\/CL\n                    <jats:sub>4<\/jats:sub>\n                    ratio. During development of a diagnostic service for BTHS, leukocyte CL\n                    <jats:sub>4<\/jats:sub>\n                    was measured in 156 controls and 34 patients with genetically confirmed BTHS. A sub\u2010group of seven subjects from three unrelated families was identified with leukocyte CL\n                    <jats:sub>4<\/jats:sub>\n                    concentrations within the control range. This had led to initial false negative disease detection in two of these patients. MLCL\/CL\n                    <jats:sub>4<\/jats:sub>\n                    in this subgroup was lower than in other BTHS patients but higher than controls, with no overlap between the groups.\n                    <jats:italic>TAZ<\/jats:italic>\n                    gene mutations in these families are all predicted to be pathological. This report describes the clinical histories of these seven individuals with an atypical phenotype: some features were typical of BTHS (five have had cardiomyopathy, one family has a history of male infant deaths, three have growth delay and five have 3\u2010MGCA) but none has persistent neutropenia, five have excellent exercise tolerance and two adults are asymptomatic. This report also emphasises the importance of measurement of MLCL\/CL\n                    <jats:sub>4<\/jats:sub>\n                    ratio rather than CL\n                    <jats:sub>4<\/jats:sub>\n                    alone in the biochemical diagnosis of the BTHS.\n                  <\/jats:p>","DOI":"10.1007\/s10545-014-9747-y","type":"journal-article","created":{"date-parts":[[2014,8,11]],"date-time":"2014-08-11T05:50:27Z","timestamp":1407736227000},"page":"279-286","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype"],"prefix":"10.1002","volume":"38","author":[{"given":"Ann","family":"Bowron","sequence":"first","affiliation":[{"name":"Department of Clinical Biochemistry University Hospitals Bristol NHS Trust Bristol BS2 8HW UK"},{"name":"NHS Barth Syndrome Service, Bristol Royal Hospital for Children University Hospitals Bristol NHS Trust Bristol BS2 8BJ UK"},{"name":"School of Cellular &amp; Molecular Medicine, School of Medical Sciences University Walk Bristol BS8 1TD UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Honeychurch","sequence":"additional","affiliation":[{"name":"Bristol Genetics Laboratory North Bristol NHS Trust Bristol BS10 5NB UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maggie","family":"Williams","sequence":"additional","affiliation":[{"name":"Bristol Genetics Laboratory North Bristol NHS Trust Bristol BS10 5NB UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverley","family":"Tsai\u2010Goodman","sequence":"additional","affiliation":[{"name":"NHS Barth Syndrome Service, Bristol Royal Hospital for Children University Hospitals Bristol NHS Trust Bristol BS2 8BJ UK"},{"name":"Department of Paediatric Cardiology, Bristol Royal Hospital for Children University Hospitals Bristol NHS Trust Bristol BS2 8BJ UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicol","family":"Clayton","sequence":"additional","affiliation":[{"name":"NHS Barth Syndrome Service, Bristol Royal Hospital for Children University Hospitals Bristol NHS Trust Bristol BS2 8BJ UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucy","family":"Jones","sequence":"additional","affiliation":[{"name":"NHS Barth Syndrome Service, Bristol Royal Hospital for Children University Hospitals Bristol NHS Trust Bristol BS2 8BJ UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graham J.","family":"Shortland","sequence":"additional","affiliation":[{"name":"Department of Metabolic Disease University Hospitals Wales Cardiff CF14 4XW UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shakeel A.","family":"Qureshi","sequence":"additional","affiliation":[{"name":"Department of Paediatric Cardiology, Evelina Children's Hospital Guy's and St Thomas\u2019 NHS Foundation Trust London SE1 7EH UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon J. R.","family":"Heales","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology Great Ormond Street Hospital NHS Foundation Trust London WC1N 3JH UK"},{"name":"University College London Institute of Child Health London WC1N 1EH UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colin G.","family":"Steward","sequence":"additional","affiliation":[{"name":"NHS Barth Syndrome Service, Bristol Royal Hospital for Children University Hospitals Bristol NHS Trust Bristol BS2 8BJ UK"},{"name":"School of Cellular &amp; Molecular Medicine, School of Medical Sciences University Walk Bristol BS8 1TD UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,8,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.171439"},{"key":"e_1_2_9_3_1","unstructured":"Alamut(2013)Software 2.3.1 incorporating PolyPhen\u20102 SIFT and multiple site prediction tools.http:\/\/www.interactive\u2010biosoftware.com."},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90209-5"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-385"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9552-4"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-23"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2013_228"},{"key":"e_1_2_9_9_1","unstructured":"GonzalezI(2013)Human Tafazzin (TAZ) Gene Mutation and Variation Database.http:\/\/www.barthsyndrome.org."},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32832a9e62"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2009.01.032"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80289-6"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btm091"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2006.06.007"},{"key":"e_1_2_9_15_1","unstructured":"NHLBI(2014)Exome Sequencing Project Exome variant Server. 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