Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

Author:

Loupatty Ference J.,Clayton Peter T.,Ruiter Jos P.N.,Ofman Rob,IJlst Lodewijk,Brown Garry K.,Thorburn David R.,Harris Robert A.,Duran Marinus,DeSousa Carlos,Krywawych Steve,Heales Simon J.R.,Wanders Ronald J.A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. β-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations;Brown;Pediatrics,1982

2. Two new sulphur-containing amino acids in man;Truscott;Biomed Mass Spectrom,1981

3. Subfractionation of mitochondria and isolation of proteins of oxidative phosphorylation;Ragan,1988

4. Preparation of succinate cytochrome c reductase and cytochrome b-c1 particle and reconstruction of Succinate cytochrome c reductase;King;Methods Enzymol,1967

5. Cytochrome oxidase from beef heart mitochondria;Wharton;Methods Enzymol,1967

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