Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Cited by 87 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Regulation of Heme Synthesis by Mitochondrial Homeostasis Proteins;Frontiers in Cell and Developmental Biology;2022-06-27
2. Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis;Scientific Reports;2022-05-30
3. Structural basis for dysregulation of aminolevulinic acid synthase in human disease;Journal of Biological Chemistry;2022-03
4. X-linked sideroblastic anaemia in a female fetus: a case report and a literature review;BMC Medical Genomics;2021-12
5. Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia;Blood Advances;2021-11-15
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