Article
Increased globotriaosylceramide in familial dysautonomia.
Lipids - 1 Dec 1992
Strasberg P, Yeger H, Warren I
Abstract excerpt
Familial Dysautonomia (FD) is an autosomal recessive disease of unknown etiology, occurring primarily in Ashkenazi Jews. Patients are neurologically impaired, with deficits primarily in autonomic and sensory functions. The biochemical and genetic defects have remained elusive, precluding carrier...
Topics
- Cell Line
- Dysautonomia, Familial
- Fibroblasts
- Gangliosides
- Glycosphingolipids
- Humans
- Karyotyping
- Lymphocytes
- Male
- Phenotype
- Trihexosylceramides
- alpha-Galactosidase