Carnitine Deficiency Disorders in Children
Author:
Publisher
Wiley
Subject
History and Philosophy of Science,General Biochemistry, Genetics and Molecular Biology,General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1196/annals.1320.004/fullpdf
Reference10 articles.
1. Carnitine disorders;Stanley;Adv. Pediatr,1995
2. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation;Wang;Hum. Mutat,2000
3. Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency;Wang;Proc. Natl. Acad. Sci. USA,1999
4. 4Treem, W.R., C.A. Stanley, D.N. Finegold et al. 1988. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N. Engl. J. Med. 319: 1331-1336.
5. 5Stanley, C.A., S. DeLeeuw, P.M. Coates et al. 1991. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann. Neurol. 30: 709-716.
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