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Prenatal diagnosis of Pompe disease — Enzyme assay or molecular testing?

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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 proband’s mutation is known, targeted mutation analysis of fetal DNA is the most reliable method for fetal evaluation.

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Authors and Affiliations

  1. Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

    R. Prajnya & Shubha R. Phadke

  2. Biochemical Genetics and Molecular Diagnostics Laboratories, Duke University Medical Center, Durham, NC, USA

    C. Rehder & D. Bali

  3. Department of Medical Genetics, SGPGIMS, Rae Bareilly Road, Lucknow, 226 014, Uttar Pradesh, India

    Shubha R. Phadke

Authors
  1. R. Prajnya
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  2. C. Rehder
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  3. Shubha R. Phadke
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  4. D. Bali
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Prajnya, R., Rehder, C., Phadke, S.R. et al. Prenatal diagnosis of Pompe disease — Enzyme assay or molecular testing?. Indian Pediatr 48, 901–906 (2011). https://doi.org/10.1007/s13312-011-0130-x

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  • DOI: https://doi.org/10.1007/s13312-011-0130-x

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