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"X-linked" sideroblastic anemia 1
- ... pyridoxine-responsive sideroblastic anemia XLSA Genetic Testing Registry: X-linked sideroblastic anemia 1 X-linked sideroblastic anemia National Organization for Rare ...
- ... PubMed Bekri S, D'Hooghe M, Vermeersch P. X-Linked Sideroblastic Anemia and Ataxia - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2006 Mar 1 [updated 2014 Apr 3]. In: Adam MP, Feldman ...
- ... Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood. 2000 Nov 1;96(9):3256-64. Citation on PubMed Cavadini ...
- ... role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation. Sci Rep. 2025 Apr 7;15(1):11843. doi: 10.1038/s41598-025-95590-x. ...
- ... mutation, which is a common cause of type 1 hereditary hemochromatosis (described above), may also increase the severity of the iron overload in X-linked sideroblastic anemia when it is inherited along with a mutation ...