Riboflavin-responsive glutaryl CoA dehydrogenase deficiency

Molecular Genetics and Metabolism

Volumn 88, Issue 1, 2006, Pages 29-37

  Chalmers, Ronald A ^a,b   Bain, Murray D ^b   Zschocke, Johannes ^c  

^a CIMOA   (United Kingdom)

^b ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Carnitine; Dietary therapy; Enzymology; Fibroblasts; GCDH; Glutaric aciduria; Glutaryl CoA dehydrogenase deficiency; Lysine metabolism; Mutation; Riboflavin

Indexed keywords

AMINO ACID; CARBOXYLIC ACID; LEUCINE; RIBOFLAVIN; SERINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPARATIVE STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SUBSTRATE; FEMALE; GENE MUTATION; GLUTARYL COENZYME A DEHYDROGENASE DEFICIENCY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; LABORATORY TEST; MALE; NUCLEOTIDE BINDING SITE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN BINDING; TREATMENT OUTCOME; URINARY EXCRETION;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; MALE; PROTEIN STRUCTURE, QUATERNARY; RIBOFLAVIN;

EID: 33646071205     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.11.007     Document Type: Article

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