1.
J Pediatr
; 84(1): 85-9, 1974 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12119962
RESUMO
Two siblings with argininosuccinic aciduria were studied by an interdisciplinary team. Considerable variability in the clinical expression of this disorder was observed in comparison with previously reported cases. Detection of the heterozygous state in the parents and in a fetal sibling was demonstrated by tissue assay for argininosuccinase activity. Mental retardation and neurologic deficits in the affected children were irreversible with dietotherapy but growth was progressive and the general course was relatively benign.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Ácido Argininossuccínico/urina , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/genética , Acidúria Argininossuccínica , Pré-Escolar , Feminino , Humanos , Deficiência Intelectual , Masculino , Linhagem , Diagnóstico Pré-Natal
2.
J Pediatr
; 80(3): 406-12, 1972 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-4334176