Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Prajnya, R; Rehder, C; Phadke, SR; Bali, D

Published Date

  • November 11, 2011

Published In

Volume / Issue

  • 48 / 11

Start / End Page

  • 901 - 902

PubMed ID

  • 22711147

Electronic International Standard Serial Number (EISSN)

  • 0974-7559

Digital Object Identifier (DOI)

  • 10.1007/s13312-011-0130-x


  • eng

Conference Location

  • India