Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
Indian Pediatr
; 48(11): 901-2, 2011 Nov 11.
Article
in 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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
Glycogen Storage Disease Type II
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Indian Pediatr
Year:
2011
Document type:
Article