Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency-Reference-Cited by-同舟云学术

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Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

Published:2002-11 Issue:3 Volume:77 Page:195-201
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Cederbaum Stephen D,Koo-McCoy Samantha,Tein Ingrid,Hsu Betty Y.L,Ganguly Arupa,Vilain Eric,Dipple Katrina,Cvitanovic-Sojat Ljerka,Stanley Charles

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference26 articles.

1. 1998 cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family;Wu;Biochem. Biophys. Res. Commun.,1998

2. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2;Tamai;J. Biol. Chem.,1998

3. Evidence for linkage of human primary carnitine deficiency with D5S436: a novel gene locus on chromosome 5q;Shoji;Am. J. Hum. Genet.,1998

4. Systemic carnitine deficiency a treatable inherited lipid-storage disease presenting as Reye’s syndrome;Chapoy;New Engl. J. Med.,1980

5. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy;Tripp;New Engl. J. Med.,1981

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