{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T10:04:26Z","timestamp":1784714666612,"version":"3.55.0"},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2003,9,1]],"date-time":"2003-09-01T00:00:00Z","timestamp":1062374400000},"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":[[2003,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A family of Turkish origin with primary systemic carnitine deficiency in the father and his two sons is described. In all three individuals, the same homozygous mutation in the OCTN2 gene (R471H) was present and carnitine uptake in fibroblasts was deficient. Whereas one boy became symptomatic with a Reye\u2010syndrome\u2010like picture of hepatopathy and encephalopathy in infancy, the other affected family members remained asymptomatic up to their current ages of 28 and 5 years, respectively.<\/jats:p>","DOI":"10.1023\/a:1025968502527","type":"journal-article","created":{"date-parts":[[2003,10,24]],"date-time":"2003-10-24T22:52:54Z","timestamp":1067035974000},"page":"613-615","source":"Crossref","is-referenced-by-count":43,"title":["Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation\/carnitine transporter OCTN2"],"prefix":"10.1002","volume":"26","author":[{"given":"U.","family":"Spiekerkoetter","sequence":"first","affiliation":[{"name":"Clinic of General Pediatrics University Children's Hospital  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Huener","sequence":"additional","affiliation":[{"name":"Division of Nutrition and Metabolism, Department of Pediatrics University of Istanbul  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Baykal","sequence":"additional","affiliation":[{"name":"Division of Nutrition and Metabolism, Department of Pediatrics University of Istanbul  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Demirkol","sequence":"additional","affiliation":[{"name":"Division of Nutrition and Metabolism, Department of Pediatrics University of Istanbul  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Duran","sequence":"additional","affiliation":[{"name":"Departments of Clinical Chemistry and Pediatrics University of Amsterdam, Emma Children's Hospital  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Departments of Clinical Chemistry and Pediatrics University of Amsterdam, Emma Children's Hospital  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Nezu","sequence":"additional","affiliation":[{"name":"Tsukuba Research Laboratory Chugai Pharmaceutical Co.  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