Pyruvate carboxylase deficiency.
J Inherit Metab Dis
; 7 Suppl 1: 74-8, 1984.
Article
em En
| MEDLINE
| ID: mdl-6434849
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.
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Base de dados:
MEDLINE
Assunto principal:
Doença da Deficiência de Piruvato Carboxilase
/
Lactatos
/
Erros Inatos do Metabolismo
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
J Inherit Metab Dis
Ano de publicação:
1984
Tipo de documento:
Article