Prenatal genetic testing, counseling and follow-up of 33 Egyptian pregnant females with history of mucopolysaccharidoses

Prenatal genetic testing, counseling and follow-up of 33 Egyptian pregnant females with history of mucopolysaccharidoses

Background: Mucopolysaccharidoses (MPS) are autosomal recessive disorders characterized by deficiency of lysosomal enzymes which break down the glycosaminoglycans (GAGs) which results in widespread intra and extra-cellular accumulations of GAGs. Early initiation of treatment, before the onset of irr...

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Bibliographic Details
Main Authors: Khaled R. Gaber, Mona M. Ibrahim, Mona K. Farag, Zeinab Y. Abdallah, Sara H. Eldessouky, Ekram M. Fateen
Format: Article
Language:English
Published: SpringerOpen 2015-04-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Mucopolysaccharidosis
Alpha-fetoprotein
Amniotic fluid
Glycosaminoglycans
Online Access:http://www.sciencedirect.com/science/article/pii/S1110863015000075

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http://www.sciencedirect.com/science/article/pii/S1110863015000075

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