1.
Ann N Y Acad Sci
; 447: 235-51, 1985.
Artigo
em Inglês
| MEDLINE
| ID: mdl-2861780
Assuntos
Acetil-CoA Carboxilase/deficiência , Biotina/deficiência , Carbono-Carbono Ligases , Carbono-Nitrogênio Ligases , Carboxiliases/deficiência , Ligases/deficiência , Doença da Deficiência de Piruvato Carboxilase , Amidoidrolases/análise , Biotina/metabolismo , Biotinidase , Células Cultivadas , Fibroblastos/enzimologia , Humanos , Cinética , Metilmalonil-CoA Descarboxilase
2.
3.
J Inherit Metab Dis
; 7 Suppl 1: 74-8, 1984.
Artigo
em Inglês
| MEDLINE
| ID: mdl-6434849
RESUMO
The causes of congenital lactic acidaemia are outlined. Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences. Other causes of defective pyruvate carboxylation are described, particularly the combined carboxylase defects.