Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
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چکیده
منابع مشابه
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to be heterozygous for the most common GNPTAB mutation. As in some carriers of Mucolipidosis II bio...
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ژورنال
عنوان ژورنال: Meta Gene
سال: 2014
ISSN: 2214-5400
DOI: 10.1016/j.mgene.2014.03.003