Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2

✍ Scribed by U. Spiekerkoetter; G. Huener; T. Baykal; M. Demirkol; M. Duran; R. Wanders; J. Nezu; E. Mayatepek

• Book ID: 111554819
• Publisher: Springer
• Year: 2003
• Tongue: English
• Weight: 45 KB
• Volume: 26
• Category: Article
• ISSN: 0141-8955
• DOI: 10.1023/a:1025968502527