eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lysosomal storage disorders |
| Comorbidity | C0002986|anderson-fabry disease |
| Sentences | 2 |
| PubMedID- 26012164 | Fabry disease (anderson-fabry disease) is one of the most common lysosomal storage diseases (after gaucher disease) caused by deficient activity of the alpha-galactosidase a (alpha-gal a) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. |
| PubMedID- 24558776 | Fabry disease (anderson-fabry disease) is one of the most common lysosomal storage diseases (after gaucher disease) caused by deficient activity of the alpha-galactosidase a (alpha-gal a) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. |
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