eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lysosomal storage disorders |
| Comorbidity | C0002986|fabry disease |
| Sentences | 3 |
| PubMedID- 25337704 | fabry disease (fd) is one of the x-linked lysosomal storage disorders caused by deficient functioning of the alpha-galactosidase a (alpha-gala) enzyme. |
| PubMedID- 23210910 | Mutation identification of fabry disease in families with other lysosomal storage disorders. |
| PubMedID- 22425450 | Several animal models of lysosomal storage diseases, including fabry disease, present a defect in inkt cell selection by the thymus. |
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