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Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.
Furuyama K, Kaneko K. Furuyama K, et al. Int J Hematol. 2018 Jan;107(1):44-54. doi: 10.1007/s12185-017-2368-0. Epub 2017 Nov 14. Int J Hematol. 2018. PMID: 29139060 Review.
These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes were reported as responsible for congenital sideroblastic anemia; however, the relationship between the function of the gene prod …
These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes wer …
Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.
Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K. Alfadhel M, et al. Neurosciences (Riyadh). 2017 Jan;22(1):4-13. doi: 10.17712/nsj.2017.1.20160542. Neurosciences (Riyadh). 2017. PMID: 28064324 Free PMC article. Review.
Located in the mitochondria, cytosol, endoplasmic reticulum and nucleus, they contribute to various core cellular functions. Until recently, only a few human diseases related to mitochondrial ISC biogenesis defects have been described. Such diseases include Friedrei …
Located in the mitochondria, cytosol, endoplasmic reticulum and nucleus, they contribute to various core cellular functions. Until recently, …
A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature.
Oncul U, Unal-Ince E, Kuloglu Z, Teber-Tiras S, Kaygusuz G, Eminoglu FT. Oncul U, et al. J Pediatr Hematol Oncol. 2021 May 1;43(4):e592-e595. doi: 10.1097/MPH.0000000000001806. J Pediatr Hematol Oncol. 2021. PMID: 32287105 Review.
ABSTRACT: Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder characterized by MLASA. ...CONCLUSION: This report adds to the growing number of mutations causing complex clinical manifestations of MLASA in …
ABSTRACT: Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder ch …