{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T20:21:11Z","timestamp":1791145271777,"version":"4.1.0"},"reference-count":30,"publisher":"Hindawi Limited","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":4494,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2003,6]]},"DOI":"10.1002\/humu.10211","type":"journal-article","created":{"date-parts":[[2003,5,14]],"date-time":"2003-05-14T11:31:51Z","timestamp":1052911911000},"page":"598-607","source":"Crossref","is-referenced-by-count":108,"title":["Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ?-subunit mutations"],"prefix":"10.1155","volume":"21","author":[{"given":"Ute","family":"Spiekerkoetter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaza","family":"Khuchua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold W.","family":"Strauss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2003,5,13]]},"reference":[{"key":"BIB1","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1086\/302261","volume":"64","author":"Andresen","year":"1999","journal-title":"Am J Hum Genet"},{"key":"BIB2","volume-title":"Current protocols in molecular biology","author":"Ausubel","year":"1994","unstructured":"1994. Current protocols in molecular biology. New York: John Wiley & Sons."},{"key":"BIB3","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1172\/JCI117894","volume":"95","author":"Brackett","year":"1995","journal-title":"J Clin Invest"},{"key":"BIB4","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1006\/bmme.1996.0033","volume":"58","author":"Brown-Harrison","year":"1996","journal-title":"Biochem Mol Med"},{"key":"BIB5","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1023\/A:1026712719416","volume":"23","author":"Chakrapani","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"BIB6","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0022-3476(98)70228-8","volume":"133","author":"Cox","year":"1998","journal-title":"J Pediatr"},{"key":"BIB7","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1542\/peds.109.1.99","volume":"109","author":"Den Boer","year":"2002","journal-title":"Pediatrics"},{"key":"BIB8","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/humu.1174","volume":"18","author":"Gregersen","year":"2001","journal-title":"Hum Mutat"},{"key":"BIB9","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1006\/mgme.2001.3282","volume":"75","author":"Hintz","year":"2002","journal-title":"Mol Genet Metab"},{"key":"BIB10","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1172\/JCI2091","volume":"102","author":"Ibdah","year":"1998","journal-title":"J Clin Invest"},{"key":"BIB11","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJM199906033402204","volume":"340","author":"Ibdah","year":"1999","journal-title":"N Engl J Med"},{"key":"BIB12","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1172\/JCI12590","volume":"107","author":"Ibdah","year":"2001","journal-title":"J Clin Invest"},{"key":"BIB13","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1203\/00006450-199609000-00005","volume":"40","author":"Isaacs","year":"1996","journal-title":"Pediatr Res"},{"key":"BIB14","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1006\/bbrc.1994.1302","volume":"199","author":"Kamijo","year":"1994","journal-title":"Biochem Biophys Res Commun"},{"key":"BIB15","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/227680a0","volume":"227","author":"Laemmli","year":"1970","journal-title":"Nature"},{"key":"BIB16","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1203\/00006450-199907000-00008","volume":"46","author":"Matern","year":"1999","journal-title":"Pediatr Res"},{"key":"BIB17","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1006\/jmbi.1997.1331","volume":"273","author":"Mathieu","year":"1997","journal-title":"J Mol Biol"},{"key":"BIB18","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/hmg\/6.8.1215","volume":"6","author":"Orii","year":"1997","journal-title":"Hum Mol Genet"},{"key":"BIB19","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1073\/pnas.86.8.2766","volume":"86","author":"Orita","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB20","doi-asserted-by":"crossref","first-page":"10928","DOI":"10.1073\/pnas.93.20.10928","volume":"93","author":"Perlick","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB21","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1146\/annurev.physiol.64.082201.154705","volume":"64","author":"Rinaldo","year":"2002","journal-title":"Annu Rev Physiol"},{"key":"BIB22","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ana.410400409","volume":"40","author":"Schaefer","year":"1996","journal-title":"Ann Neurol"},{"key":"BIB23","doi-asserted-by":"crossref","first-page":"7523","DOI":"10.1073\/pnas.90.13.6155","volume":"90","author":"Sims","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB24","first-page":"979","volume":"58","author":"Ushikubo","year":"1996","journal-title":"Am J Hum Genet"},{"key":"BIB25","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/S0140-6736(89)90300-0","volume":"ii","author":"Wanders","year":"1989","journal-title":"Lancet"},{"key":"BIB26","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1016\/0006-291X(92)91350-Y","volume":"188","author":"Wanders","year":"1992","journal-title":"Biochem Biophys Res Commun"},{"key":"BIB27","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1023\/A:1005504223140","volume":"22","author":"Wanders","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"BIB28","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/0140-6736(93)92993-4","volume":"341","author":"Wilcken","year":"1993","journal-title":"Lancet"},{"key":"BIB29","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1006\/geno.1996.0533","volume":"37","author":"Yang","year":"1996","journal-title":"Genomics"},{"key":"BIB30","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1067\/mob.2002.125893","volume":"187","author":"Yang","year":"2002","journal-title":"Am J Obstet Gynecol"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.10211","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.10211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:50:26Z","timestamp":1672332626000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.10211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5,13]]},"references-count":30,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2003,6]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.10211","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5,13]]}}}