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先天性丙酮酸激酶缺乏症临床及实验室检查特征分析

L Song, Y Li,G X Peng,L Zhang,L P Jing,K Zhou, Y Li,L Ye,J P Li,H H Fan,X Zhao,W R Yang, Y Yang,Y P Zhao,Y Z Xiong,Z J Wu,F K Zhang

Zhonghua nei ke za zhi（2018）

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Abstract
通过分析确诊的19例先天性丙酮酸激酶缺乏症患者资料,总结了对先天性丙酮酸激酶缺乏症患者的溶血病因诊断有提示作用的临床和实验室特征.对新生儿高胆红素血症和不明原因的溶血性贫血患者进行丙酮酸激酶活性筛查和二代基因测序可能有助于早期明确诊断.
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Key words
Diagnosis,Pyruvate kinase deficiency
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