PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0282193|iron overload |
| Sentences | 2 |
| PubMedID- 23615448 | Decreased expression of the fe/s cluster biogenesis protein frataxin in friedreich's ataxia patients leads to mitochondrial iron overload and a decrease in the activities of fe/s cluster–dependent enzymes (sheftel et al., 2010; ye and rouault, 2010). |
| PubMedID- 23455710 | Those mutations are also causative of human diseases, namely friedreich’s ataxia, sideroblastic anemia with iron overload, and x-linked sideroblastic anemia with ataxia, respectively [37, 38]. |
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