因线粒体基因m.10191T>C变异导致类 Leigh 综合征并需要脾切除术的溶血性贫血 - Suppr

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超能文献

Hemolytic Anemia Requiring Splenectomy in Leigh-Like Syndrome due to the Variant m.10191T>C in -.

作者信息

Newstead Shaundra M, Finsterer Josef

机构信息

HeatSync Biochemistry Laboratory, Mesa, AZ 85201, USA.

Neurology and Neurophysiology Center, Vienna, Austria.

出版信息

J Hematol. 2023 Aug;12(4):197-200. doi: 10.14740/jh1122. Epub 2023 Jul 12.

DOI:10.14740/jh1122

PMID:37692867

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10482609/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eede/10482609/11df70366013/jh-12-197-g001.jpg

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Hemolytic Anemia Requiring Splenectomy in Leigh-Like Syndrome due to the Variant m.10191T>C in -.因线粒体基因m.10191T>C变异导致类 Leigh 综合征并需要脾切除术的溶血性贫血

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Cureus. 2022 Sep 9;14(9):e28986. doi: 10.7759/cureus.28986. eCollection 2022 Sep.

Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients.病例报告：一名中国男孩及139例患者的皮尔逊综合征的临床和遗传特征

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Clinical and genetic features of four patients with Pearson syndrome: An observational study.Pearson 综合征四例临床及遗传学特征观察研究

Medicine (Baltimore). 2022 Feb 4;101(5):e28793. doi: 10.1097/MD.0000000000028793.

Pearson syndrome in a child transplanted for Diamond-Blackfan anemia.患儿因 Diamond-Blackfan 贫血行移植后出现 Pearson 综合征。

Arch Argent Pediatr. 2021 Oct;119(5):e559-e561. doi: 10.5546/aap.2021.eng.e559.

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MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction.线粒体 DNA 突变会损害红细胞成熟过程中线粒体的清除，导致红细胞破坏增加。

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