{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:54:11Z","timestamp":1761101651999},"reference-count":4,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,6,1]],"date-time":"2002-06-01T00:00:00Z","timestamp":1022889600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2002,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We identified a new Y243S mutation in the X\u2010linked E1 \u03b1\u2010PDH gene in a patient with pyruvate dehydrogenase complex (PDHc) deficiency. The activity in cultured fibroblasts was very low even in the presence of high thiamine pyrophosphate (TPP) concentrations, indicating that the defect could be due to decreased affinity of PDHc for TPP.<\/jats:p>","DOI":"10.1023\/a:1016570828778","type":"journal-article","created":{"date-parts":[[2002,12,29]],"date-time":"2002-12-29T03:32:49Z","timestamp":1041132769000},"page":"325-327","source":"Crossref","is-referenced-by-count":6,"title":["A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction"],"prefix":"10.1002","volume":"25","author":[{"given":"C.","family":"Benelli","sequence":"first","affiliation":[{"name":"INSERM U530 H\u00f4pital Necker  Paris"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Fouque","sequence":"additional","affiliation":[{"name":"INSERM U530 H\u00f4pital Necker  Paris"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Redonnet\u2010Vernhet","sequence":"additional","affiliation":[{"name":"Laboratoire de biochimie H\u00f4pital Pellegrin  Bordeaux"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Malgat","sequence":"additional","affiliation":[{"name":"EMI 99\u201029, INSERM Universit\u00e9  Bordeaux 2 Bordeaux"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Fontan","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie H\u00f4pital Pellegrin  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Marsac","sequence":"additional","affiliation":[{"name":"Laboratoire CNRS UPR 1524 Facult\u00e9 Cochin  Paris"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Dey","sequence":"additional","affiliation":[{"name":"Laboratoire CNRS UPR 1524 Facult\u00e9 Cochin  Paris"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010203"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050449"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/117.3.435"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1016570828778","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1016570828778","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T21:47:04Z","timestamp":1694814424000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1016570828778"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6]]},"references-count":4,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,6]]}},"alternative-id":["10.1023\/A:1016570828778"],"URL":"https:\/\/doi.org\/10.1023\/a:1016570828778","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6]]}}}