Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype.
Arnold
G L
GL
Department of Pediatrics, University of Rochester, School of Medicine and Dentistry, New York 14642, USA.
Griebel
M L
ML
Porterfield
M
M
Brewster
M
M
D000138:Acidosis / Q000209:etiology; D002675:Child, Preschool; D006801:Humans; D008297:Male; D010291:Paresis / Q000209:etiology; D010641:Phenotype; D015324:Pyruvate Carboxylase Deficiency Disease / Q000150:complications* / Q000235:genetics / Q000628:therapy