Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
Indian Pediatr
; 48(11): 901-2, 2011 Nov 11.
Article
em En
| MEDLINE
| ID: mdl-22711147
ABSTRACT
We report two cases which illustrate that enzyme assay results alone, may at times be equivocal and inconclusive in the prenatal diagnosis of storage disorders like Pompe disease and therefore, if the probands mutation is known, targeted mutation analysis of fetal DNA is the most reliable method for fetal evaluation.
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Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Doença de Depósito de Glicogênio Tipo II
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Indian Pediatr
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Índia