Hyperammonemia with citrullinemia.
Indian Pediatr
;
2004 Aug; 41(8): 842-4
Artigo
em Inglês
| IMSEAR
| ID: sea-10813
ABSTRACT
Two cases of hyperammonemia with elevated citrulline are reported, one resulting from a deficiency of pyruvate carboxylase and the other from a partial deficiency of argininosuccinate synthetase. Diagnosis was based on clinical, biochemical and amino acid profiles. The utility of amino acid determinations in hyperammonemia suspected to underlie an inborn error of metabolism is emphasized.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Masculino
/
Recém-Nascido
/
Adolescente
/
Citrulinemia
/
Hiperamonemia
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2004
Tipo de documento:
Artigo
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