Yield of additional metabolic studies in neurodevelopmental disorders.
Ann Neurol
; 64(2): 212-7, 2008 Aug.
Article
em En
| MEDLINE
| ID: mdl-18570304
ABSTRACT
The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients with unexplained neurodevelopmental disorders were included. Initial metabolic studies had been performed in most patients (87%) before referral. Additional/repeated metabolic studies were individually tailored. Twelve metabolic diseases of 433 patients studied (2.8%) were diagnosed, despite normal initial metabolic studies before referral. Specific metabolic investigations lead to a greater diagnostic yield in patients with neurodevelopmental disorders.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Deficiências do Desenvolvimento
/
Doenças Metabólicas
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
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Child, preschool
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Female
/
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article