Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex

Journal of Inherited Metabolic Disease

Volumn 19, Issue 4, 1996, Pages 452-462

  Robinson, B H ^a,b   MacKay, N ^a,b   Chun, K ^a,b   Ling, M ^a,b  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE; PYRUVATE CARBOXYLASE; PYRUVATE DEHYDROGENASE COMPLEX; THIAMINE;

ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; CELL CULTURE; CONFERENCE PAPER; CROSS REACTION; ETHNIC GROUP; EXON; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; LACTIC ACIDOSIS; MISSENSE MUTATION; PYRUVATE CARBOXYLASE DEFICIENCY; SEX DIFFERENCE; SURVIVAL; SYMPTOM; UREA CYCLE;

EID: 0029766887     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799106     Document Type: Conference Paper

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