1.
J Inherit Metab Dis
; 25(7): 599-600, 2002 Nov.
Article
in English
| 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.
Subject(s)
Metabolism, Inborn Errors/diagnosis , Neonatal Screening , Adolescent , Biotinidase Deficiency/diagnosis , Child , Child, Preschool , Galactosemias/diagnosis , Homocystinuria/diagnosis , Humans , Infant , Infant, Newborn , Maple Syrup Urine Disease/diagnosis , Outcome Assessment, Health Care
2.
J Inherit Metab Dis
; 24(2): 303-4, 2001 Apr.
Article
in English
| MEDLINE
| ID: mdl-11405349
3.
Am J Nurs
; 93(12): 17, 1993 Dec.
Article
in English
| MEDLINE
| ID: mdl-8304373
