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Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
Prajnya, R; Rehder, C; Phadke, S R; Bali, D.
Affiliation
  • Prajnya R; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
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
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PubMed Links

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