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Three-generation female cohort with macrocytic anemia and iron overload.

作者信息

Boucher Alexander A, Dayton Vanessa J, Pratt Annaliisa R, Nassar Nicolas N, Elgammal Yasmin, Kalfa Theodosia A

机构信息

Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.

Division of Hematology, Oncology, and Transplantation, Department of Medicine, University of Minnesota, Minneapolis, Minnesota, USA.

出版信息

Am J Hematol. 2025 Jan;100(1):133-138. doi: 10.1002/ajh.27489. Epub 2024 Sep 27.

DOI:10.1002/ajh.27489
PMID:39329459
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11625981/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b05/11625981/019af506d1dd/AJH-100-133-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b05/11625981/a953cc31364a/AJH-100-133-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b05/11625981/b65d9654a483/AJH-100-133-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b05/11625981/019af506d1dd/AJH-100-133-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b05/11625981/a953cc31364a/AJH-100-133-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b05/11625981/b65d9654a483/AJH-100-133-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b05/11625981/019af506d1dd/AJH-100-133-g003.jpg

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Am J Hematol. 2023 Aug;98(8):1335-1340. doi: 10.1002/ajh.26916. Epub 2023 Apr 8.
2
Structural basis for dysregulation of aminolevulinic acid synthase in human disease.人类疾病中氨基酮戊酸合酶失调的结构基础。
J Biol Chem. 2022 Mar;298(3):101643. doi: 10.1016/j.jbc.2022.101643. Epub 2022 Jan 28.
3
X-linked sideroblastic anaemia in a female fetus: a case report and a literature review.女性胎儿 X 连锁铁幼粒细胞性贫血:病例报告及文献复习。
BMC Med Genomics. 2021 Dec 20;14(1):296. doi: 10.1186/s12920-021-01146-z.
4
Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.阿扎胞苷是一种治疗吡哆醇难治性女性 X 连锁铁粒幼细胞性贫血的潜在治疗药物。
Blood Adv. 2022 Feb 22;6(4):1100-1114. doi: 10.1182/bloodadvances.2021005664.
5
Red cell membrane disorders: structure meets function.红细胞膜疾病:结构与功能的相遇。
Blood. 2020 Sep 10;136(11):1250-1261. doi: 10.1182/blood.2019000946.
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Congenital dyserythropoietic anemias.先天性红细胞生成异常性贫血。
Blood. 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948.
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The Human Gene Mutation Database (HGMD): optimizing its use in a clinical diagnostic or research setting.人类基因突变数据库(HGMD):优化其在临床诊断或研究环境中的使用。
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