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儿童Shwachman-Diamond综合征5例并文献复习 被引量：7

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摘要 Shwachman-Diamond综合征（SDS）是一种罕见的常染色体隐性遗传病。可出现多系统受累的病变，主要表现为胰腺外分泌功能不全、骨髓功能障碍、先天发育异常以及容易转化为骨髓增生异常综合征（myelodysplasticsyndrome，MDS）或白血病，特别是急性髓系白血病（acutemyeloidleukemia．AML），除此之外，可有生长发育落后，
作者 温贤浩 肖剑文 于洁 宪莹 管贤敏 郭玉霞
机构地区 重庆医科大学附属儿童医院血液肿瘤科
出处 《中国当代儿科杂志》 CAS CSCD 北大核心 2013年第11期970-974,共5页 Chinese Journal of Contemporary Pediatrics
关键词 Shwachman-Diamond综合征 文献复习 急性髓系白血病 常染色体隐性遗传病 胰腺外分泌功能不全 骨髓增生异常综合征 儿童 骨髓功能障碍
分类号 R725.5 [医药卫生—儿科]
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参考文献22

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  • 4陈玉梅,阮敏,邹尧,郭晔,王书春,陈晓娟,张丽,刘天峰,竺晓凡.21例先天性纯红细胞再生障碍性贫血核糖体蛋白基因突变分析[J].中国实验血液学杂志,2012,20(6):1414-1418. 被引量：7
  • 5Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, Kanno M, et al. Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations[J].J Exp Med, 2005, 206(3): 253-259.
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二级参考文献20

  • 1Lipton JM, Atsidaftos E, Zyskind I, et al. Improving clinical careand elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer, 2006 ;46 ( 5 ) :558 - 564.
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共引文献6

同被引文献53

  • 1余飞,王智胜,余艳,叶鹏,苏美云,李乾兵.宏基因二代测序辅助诊断鹦鹉热衣原体肺炎一例[J].临床内科杂志,2022,39(12):850-851. 被引量：1
  • 2竺晓凡.儿童骨髓衰竭综合征[J].实用儿科临床杂志,2007,22(3):165-167. 被引量：5
  • 3Sakaguchi H,Nakanishi K,Kojima S.Inherited bone marrow failure syndromes in 2012[J].Int J Hematol,2013,97(1):20-29.
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  • 5Khincha PP,Savage SA.Genomic characterization of the inherited bone marrow failure syndromes[J].Semin Hematol,2013,50(4):333-347.
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引证文献7

二级引证文献15

中国当代儿科杂志
2013年 第11期

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