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

• Autores principales: Asuman Özkara (Autor), Ebru Dikensoy (Autor), Tülay Özlü (Autor), Meral Topçu (Autor), Nur Çakar (Autor), Mehmet Sinan Beksaç (Autor)
• Formato: Libro
• Publicado: Medical Network, 2008-04-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...