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

• Main Authors: Asuman Özkara (Author), Ebru Dikensoy (Author), Tülay Özlü (Author), Meral Topçu (Author), Nur Çakar (Author), Mehmet Sinan Beksaç (Author)
• Format: Book
• Published: Medical Network, 2008-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...