Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 383-386

  Christensen, E ^a   Ribes, A ^b   Busquets, C ^b   Pineda, M ^b   Duran, M ^c   Poll The, B T ^c   Greenberg, C R ^d   Leffers, H ^a   Schwartz, M ^a  

^a Rigshospitalet   (Denmark)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY OF MANITOBA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ACIDURIA; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HETEROZYGOSITY; HUMAN; MALE; POINT MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; MALE; MUTATION; NETHERLANDS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; POLYMERASE CHAIN REACTION; SPAIN;

EID: 0030748768     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005390214391     Document Type: Conference Paper

References (10)

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