Enzymology of the branched-chain amino acid oxidation disorders: The valine pathway

Journal of Inherited Metabolic Disease

Volumn 35, Issue 1, 2012, Pages 5-12

  Wanders, Ronald J A ^a   Duran, Marinus ^a   Loupatty, Ference J ^a,b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Onze Lieve Vrouwe Gasthuis ^*  (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLBUTYRYL COENZYME A; 3 HYDROXY 2 METHYLBUTYRYL COENYME A DEHYDROGENASE; 3 HYDROXYISOBUTYRIC ACID DEHYDROGENASE; 3 HYDROXYISOBUTYRYL COENZYME A HYDROLASE; COMPLEMENTARY DNA; ISOBUTYRYL COENZYME A DEHYDROGENASE; ISOVALERYL COENZYME A DEHYDROGENASE; METHACRYLYL COENZYME A HYDRATASE; METHYLMALONIC SEMIALDEHYDE DEHYDROGENASE; PROPIONYL COENZYME A; UNCLASSIFIED DRUG; VALINE;

3 HYDROXYISOBUTYRATE COENZYME A HYDROLASE DEFICIENCY; 3 HYDROXYISOBUTYRYL COENZYME A HYDROLASE DEFICIENCY; AMINO ACID METABOLISM; AMINO ACID SEQUENCE; ARTICLE; CATALYSIS; DEHYDROGENATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME DEGRADATION; ENZYME MECHANISM; ENZYME PURIFICATION; ENZYMOLOGY; GENE EXPRESSION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HYDRATION; INBORN ERROR OF METABOLISM; ISOBUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; LIVER MITOCHONDRION; METHYLMALONIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; MISSENSE MUTATION; NEWBORN SCREENING; NONHUMAN; PATIENT IDENTIFICATION; PROTEIN ANALYSIS; PROTEIN DEGRADATION;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACIDS, BRANCHED-CHAIN; ANIMALS; ENOYL-COA HYDRATASE; HUMANS; HYDROXYBUTYRATE DEHYDROGENASE; METHYLMALONATE-SEMIALDEHYDE DEHYDROGENASE (ACYLATING); MITOCHONDRIA; MODELS, CHEMICAL; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; OXYGEN; THIOLESTER HYDROLASES; VALINE;

EID: 84863335766     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9236-x     Document Type: Article

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