Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening-Reference-Cited by-同舟云学术

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

Published:2010-08 Issue:4 Volume:100 Page:333-338
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Alfardan Jaffar,Mohsen Al-Walid,Copeland Sara,Ellison Jay,Keppen-Davis Laura,Rohrbach Marianne,Powell Berkley R.,Gillis Jane,Matern Dietrich,Kant Jeffrey,Vockley Jerry

Publisher

Elsevier BV

Subject

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

Reference42 articles.

1. Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria;Ikeda;J. Biol. Chem.,1983

2. Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme;Ikeda;J. Biol. Chem.,1985

3. Purification and characterization of 2-methyl-branched chain acyl coenzyme A dehydrogenase, an enzyme involved in isoleucine and valine metabolism, from rat liver mitochondria;Ikeda;J. Biol. Chem.,1983

4. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. 1. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase;Izai;J. Biol. Chem.,1992

5. Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family;Rozen;Genomics,1994

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