Newborn screening compared to clinical identification of biochemical genetic disorders.
J Inherit Metab Dis
; 25(7): 599-600, 2002 Nov.
Article
en En
| MEDLINE
| ID: mdl-12638945
ABSTRACT
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tamizaje Neonatal
/
Errores Innatos del Metabolismo
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
2002
Tipo del documento:
Article
País de afiliación:
Estados Unidos