Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
نویسندگان
چکیده
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.
منابع مشابه
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Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glucosidase enzyme by which it is degraded. It is a rare disease, accounting for 1:40.000 births. It is inherited as an autosomal recessive trait so that a couple presents a recurrent risk of 25% to have a child affected, at each pregnancy. The diagnosis could be achieved by biochemical and/or molec...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 48 11 شماره
صفحات -
تاریخ انتشار 2011