61. Pyruvate kinase deficiency, a family studyPediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant ...
A2.一个重要的鉴别诊断是 遗传性球细胞增多症 (Hereditary spherocytosis),但血膜上 没有显示球细胞 (Spherocytes)。 最常见的遗传性糖酵解途径酶病(Inherited glycolytic pathway enzymopathies)是丙酮酸激酶缺乏症(Pyruvate kinase deficiency,PKD),也是本病的诊断。 自溶血试验 (Auto-hemolysis)具有历史和理论意义...
A mutant pyruvate kinase (ATP:pyruvate 2-O-phosphotransferase, EC 2.7.1.40) from human erythrocytes which is easily separated into monomers and dimers by gel chromatography is described. The mutant enzyme shows almost the same pH optimum and thermostability as normal enzyme, but has a decreased st...
网络释义 1. 丙酮酸激酶缺乏症 关节痛 arthralgia ... 蚕豆病 favism丙酮酸激酶缺乏症pyruvate kinase deficiency免疫性溶血性贫血 immune hemolytic anemia ... www.for68.com|基于33个网页 2. 丙酮酸鷼激酶缺乏 new file download... ...pyruvate kinase deficiency丙酮酸鷼激酶缺乏pyruvic dehydrogenase 丙酮酸(...
Journal of Blood Medicine Dovepress open access to scientific and medical research Open Access Full Text Article REVIEW Pyruvate Kinase Deficiency: Current Challenges and Future Prospects Bruno Fattizzo 1,2, Francesca Cavallaro1,2, Anna Paola Maria Luisa Marcello1, Cristina Vercellati1, Wilma Bar...
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Mitapivat in adult patients with pyruvate kinase deficiency receiving regular transfusions (ACTIVATE-T): a multicentre, open-label, single-arm, phase 3 trial Lancet Haematol 2022 Aug 18;[EPub Ahead of Print], A Glenthøj, EJ van Beers, H Al-Samkari, V Viprakasit, ...
6) pyruvate carboxylase deficiency 丙酮酸脱羧化酶缺乏补充资料:红细胞丙酮酸激酶缺陷 红细胞丙酮酸激酶缺陷 erythrocyte pyruvate kinase deficency 本病为常染色体隐性遗传,男女均可发病,只有纯合子有临床症状,杂合子则无临床症状。目前发现本病变异型十余种,系先天性非球性细胞溶血性贫血Ⅱ型的原因之一。临床上...
Pyruvate kinase deficiency, one of the most common enzymatic defects of the erythrocyte, manifests clinically as a hemolytic anemia that can range from a mildly compensated anemia to severe anemia of childhood. It is caused by mutations in the PKLR gene. Surprisingly, however, the symptomatology ...
If you or a family member have been diagnosed with Pyruvate Kinase Deficiency, you probably have many questions running through your head. What kind of disease is it? Will I or my family member be able to live a normal life? What precautions should I tak