Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference17 articles.
1. Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome
2. Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts
3. Transport of carnitine into cells in hereditary carnitine deficiency
4. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
5. Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency
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