Systemic Primary Carnitine Deficiency
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-07500-6_60
Reference5 articles.
1. Lamhonwah AM, Tein I. Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene. Biochem Biophys Res Commun. 1998;252:396–401.
2. Chapoy PR, Angelini C, Brown WJ, Stiff JE, Shug A, Cederbaum SD. Systemic carnitine deficiency – a treatable inherited lipid-storage disease presenting as Reye’s syndrome. N Engl J Med. 1980;303:1389–94.
3. Cederbaum SD, Koo-McCoy S, Tein I, Hsu BYL, Ganguly A, Vilain E, Dipple K, Cvitanovic-Sojat L, Stanley C. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab. 2002;77:195–201.
4. Engel AG, Angelini C. Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome. Science. 1973;179(4076):899–902.
5. Karpati G, Carpenter S, Engel AG, Watters G, Allen J, Rothman S, Klassen G, Mamer OA. The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. Neurology. 1975;25(1):16–24.
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