Fabry disease in an X-linked disorder characterized by the abnormal accumulation of a neutral glycolipid, trihexosylceramide, and its clinical manifestations are protean. The deficient enzyme is the one which cleaves the glycosidic bond between the terminal and pre-terminal galactose residues of trihexosylceramide. We report on the alpha-galactosidase assay and X-inactivation studies in patients with a suspected Fabry disease.
|Numero di pagine
|American Journal of Human Genetics
|Stato di pubblicazione
|Pubblicato - 2002
- Fabry disease