Related Experiment Videos
First-trimester enzyme exclusion of Farber disease using a micromethod with [3H]ceramide
V S Akhunov1, S S Gargaun, X D Krasnopolskaya
1Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
Journal of Inherited Metabolic Disease
|January 1, 1995
Abstract:
Farber disease was diagnosed in a patient with typical features and ceramide accumulation in lipogranulomatous nodules. [3H]Ceramide with high specific activity was prepared and used to confirm diagnosis in the patient after her death and for prenatal studies in this family. A micromethod was developed for ceramidase assay in chorionic villi.