Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample

Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample

OBJECTIVE AND STUDY DESIGN: The prenatal diagnosis of Sandhoff disease (SD) was performed in 14 fetuses of families by the analysis of chorionic villus sample obtained at 11-14 weeks of gestation. The diagnosis was based on the absence or near-absence of total hexosaminidase activity using fluorogen...

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Bibliographic Details
Main Authors: Asuman Özkara, Ebru Dikensoy, Tülay Özlü, Meral Topçu, Nur Çakar, Mehmet Sinan Beksaç
Format: Article
Language:English
Published: Medical Network 2008-04-01
Series:Gynecology Obstetrics & Reproductive Medicine
Subjects:
Prenatal diagnosis, Sandhoff disease, Chorionic villus sampling, Hexosaminidase
Online Access:http://gorm.com.tr/index.php/GORM/article/view/420

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http://gorm.com.tr/index.php/GORM/article/view/420

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