Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria

Molecular Genetics and Metabolism

Volumn 66, Issue 3, 1999, Pages 199-204

  Nyhan, William L ^a   Zschocke, Johannes ^b   Hoffmann, Georg ^b   Stein, Donna E ^b   Bao, Liming ^c   Goodman, Stephen ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

3 hydroxyglutaric aciduria; Dystonia; Glutaryl CoA dehydrogenase

Indexed keywords

ARGININE; GLUTAMIC ACID; GLUTARIC ACID; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE; LYSINE; PROLINE;

ACIDURIA; ALLELISM; ARTICLE; ATAXIA; CASE REPORT; CHILD; DYSTONIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; PRIORITY JOURNAL; URINE LEVEL;

ATAXIA;

EID: 0032809039     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2794     Document Type: Article

References (20)

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