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Diamond-Blackfan anemia with very late and fatal onset aplasia in a 55-year-old patient with RPL11 mutation.

作者信息

Strasser Bernhard, Heibl Sonja, Hörmann Gregor, Haushofer Alexander

机构信息

Institute of Clinical Chemistry and Laboratory Medicine, Hospital Wels-Grieskirchen, Grieskirchnerstraße 42, Wels, 4600, Austria.

Institute of Internal Medicine IV, Hospital Wels-Grieskirchen, Wels, Austria.

出版信息

Ann Hematol. 2024 Mar;103(3):1011-1012. doi: 10.1007/s00277-023-05553-3. Epub 2023 Nov 23.

DOI:10.1007/s00277-023-05553-3
PMID:37993587
Abstract
摘要

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Diamond-Blackfan anemia with very late and fatal onset aplasia in a 55-year-old patient with RPL11 mutation.一名55岁患有RPL11突变的患者发生的具有极晚发和致命性再生障碍的先天性纯红细胞再生障碍性贫血。
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Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.捷克钻石-黑范贫血患者核糖体蛋白L5（RPL5）和核糖体蛋白L11（RPL11）基因突变的鉴定
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Ann Hematol. 2023 Aug;102(8):2291-2292. doi: 10.1007/s00277-023-05215-4. Epub 2023 Apr 27.
2
Clinical characteristics and outcomes of 100 adult patients with pure red cell aplasia.100 例纯红细胞再生障碍性贫血成年患者的临床特征和结局。
Ann Hematol. 2022 Jul;101(7):1493-1498. doi: 10.1007/s00277-022-04847-2. Epub 2022 Apr 23.
3
Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report.
成人起病 Diamond-Blackfan 贫血伴 RPL11 基因突变病例报告。
Am J Case Rep. 2022 Jan 17;23:e932649. doi: 10.12659/AJCR.932649.
4
Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.144 例梅奥诊所遗传性易患综合征患者的血液系统恶性肿瘤谱、克隆进化和结局。
Am J Hematol. 2021 Nov 1;96(11):1450-1460. doi: 10.1002/ajh.26321. Epub 2021 Aug 27.
5
How I manage acquired pure red cell aplasia in adults.成人获得性纯红细胞再生障碍性贫血的治疗策略。
Blood. 2021 Apr 15;137(15):2001-2009. doi: 10.1182/blood.2021010898.
6
Diamond-Blackfan anemia. Diamond-Blackfan 贫血。
Blood. 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947.
7
Pure red cell aplasia.纯红细胞再生障碍。
Blood. 2016 Nov 24;128(21):2504-2509. doi: 10.1182/blood-2016-05-717140.
8
Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare.成人期发病的戴蒙德-布莱克范贫血伴核糖体蛋白L11第5外显子新突变：为时已晚且极为罕见。
Clin Case Rep. 2015 Jun;3(6):392-5. doi: 10.1002/ccr3.240. Epub 2015 Apr 9.
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Pure red cell aplasia and lymphoproliferative disorders: an infrequent association.纯红细胞再生障碍性贫血与淋巴增殖性疾病：一种罕见的关联。
ScientificWorldJournal. 2012;2012:475313. doi: 10.1100/2012/475313. Epub 2012 Apr 19.
10
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Haematologica. 2010 Feb;95(2):206-13. doi: 10.3324/haematol.2009.011783. Epub 2009 Sep 22.