1.
J Inherit Metab Dis
; 25(7): 599-600, 2002 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12638945
RESUMO
A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by screening were compared with a group of 17 similar patients identified clinically. The rate of hospitalization was similar for the two groups. The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs.
Assuntos
Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal , Adolescente , Deficiência de Biotinidase/diagnóstico , Criança , Pré-Escolar , Galactosemias/diagnóstico , Homocistinúria/diagnóstico , Humanos , Lactente , Recém-Nascido , Doença da Urina de Xarope de Bordo/diagnóstico , Avaliação de Resultados em Cuidados de Saúde
2.
J Inherit Metab Dis
; 24(2): 303-4, 2001 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11405349
3.
Am J Nurs
; 93(12): 17, 1993 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-8304373