Direct diagnosis of Wilson disease by molecular genetics.
J Pediatr
; 148(1): 138-40, 2006 Jan.
Article
em En
| MEDLINE
| ID: mdl-16423615
ABSTRACT
In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal, which made the diagnosis of Wilson disease unlikely, analysis of ATP7B gene showed disease causing mutations in all. Molecular diagnosis should be considered in children with enigmatic liver disease, especially those with features of nonalcoholic fatty liver disease.
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Base de dados:
MEDLINE
Assunto principal:
Adenosina Trifosfatases
/
Proteínas de Transporte de Cátions
/
Degeneração Hepatolenticular
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Itália