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

• Asıl Yazarlar: Asuman Özkara (Yazar), Ebru Dikensoy (Yazar), Tülay Özlü (Yazar), Meral Topçu (Yazar), Nur Çakar (Yazar), Mehmet Sinan Beksaç (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Medical Network, 2008-04-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...