Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
Publication
, Journal Article
Prajnya, R; Rehder, C; Phadke, SR; Bali, D
Published in: Indian Pediatr
November 11, 2011
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.
Duke Scholars
Published In
Indian Pediatr
DOI
EISSN
0974-7559
Publication Date
November 11, 2011
Volume
48
Issue
11
Start / End Page
901 / 902
Location
India
Related Subject Headings
- Prenatal Diagnosis
- Pregnancy
- Pediatrics
- Humans
- Glycogen Storage Disease Type II
- Genetic Testing
- Female
- DNA Mutational Analysis
- 3213 Paediatrics
- 1114 Paediatrics and Reproductive Medicine
Citation
APA
Chicago
ICMJE
MLA
NLM
Prajnya, R., Rehder, C., Phadke, S. R., & Bali, D. (2011). Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing? Indian Pediatr, 48(11), 901–902. https://doi.org/10.1007/s13312-011-0130-x
Prajnya, R., C. Rehder, S. R. Phadke, and D. Bali. “Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?” Indian Pediatr 48, no. 11 (November 11, 2011): 901–2. https://doi.org/10.1007/s13312-011-0130-x.
Prajnya R, Rehder C, Phadke SR, Bali D. Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing? Indian Pediatr. 2011 Nov 11;48(11):901–2.
Prajnya, R., et al. “Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?” Indian Pediatr, vol. 48, no. 11, Nov. 2011, pp. 901–02. Pubmed, doi:10.1007/s13312-011-0130-x.
Prajnya R, Rehder C, Phadke SR, Bali D. Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing? Indian Pediatr. 2011 Nov 11;48(11):901–902.
Published In
Indian Pediatr
DOI
EISSN
0974-7559
Publication Date
November 11, 2011
Volume
48
Issue
11
Start / End Page
901 / 902
Location
India
Related Subject Headings
- Prenatal Diagnosis
- Pregnancy
- Pediatrics
- Humans
- Glycogen Storage Disease Type II
- Genetic Testing
- Female
- DNA Mutational Analysis
- 3213 Paediatrics
- 1114 Paediatrics and Reproductive Medicine