Article
Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Apr 2006
Maier Esther M, Osterrieder Stephanie, Whybra Catharina, Ries Markus, Gal Andreas, Beck Michael, Roscher Adelbert A, Muntau Ania C
Abstract excerpt
AIM: Fabry disease is an X-linked lysosomal storage disorder characterized by an accumulation of neutral glycosphingolipids in multiple organ systems caused by alpha-galactosidase A deficiency due to mutations in the GLA gene. The majority of heterozygous females show the characteristic signs and symptoms of the disease, and some of them are severely affected. The current hypothesis for the occurrence of disease...
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