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Sudden neonatal death in carnitine transporter deficiency

✍ Scribed by Piero Rinaldo; Charles A. Stanley; Betty Y.L. Hsu; Luis A. Sanchez; Harvey J. Stern


Book ID
117165688
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
489 KB
Volume
131
Category
Article
ISSN
1097-6833

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## Communicated by Nancy Spinner Primary carnitine deficiency is a recessive disorder caused by heterogeneous mutations in the SLC22A5 gene encoding the OCTN2 carnitine transporter. Here we extend mutational analysis to eight new families with this disorder. To determine the mechanism by which miss