1.
Indian Pediatr
;
2011 November; 48(11): 901-902
Article
Dans Anglais
| IMSEAR
| ID: sea-169019
Résumé
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 proband’s mutation is known, targeted mutation analysis of fetal DNA is the most reliable method for fetal evaluation.