eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | fabry disease |
| Comorbidity | C0042373|vascular disease |
| Sentences | 3 |
| PubMedID- 21825987 | The existence of an atypical variant of fabry disease with late-onset cerebrovascular disease (cerebrovascular variant) is now suggested, like the cardiac and renal variants of fabry disease. |
| PubMedID- 23531228 | Background: fabry disease is an x-linked lysosomal storage disorder caused by alpha-galactosidase a deficiency leading to renal, cardiac, cerebrovascular disease and premature death. |
| PubMedID- 20360539 | These findings suggest that atypical variants of fabry disease with late-onset cerebrovascular disease exist, although the clinical relevance is unclear in all cases. |
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