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...
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(...
A. Pyruvate dehydrogenase kinase-4 deficiency lowers blood glucose and improves glucose tolerance in diet-induced obese mice. Am. J. Physiol. Endocrinol. Metab. 295, E46–54, doi: 10.1152/ajpendo.00536.2007 (2008). Scientific Reports | 5:16577 | DOI: 10.1038/srep16577 14 www.nature.com/...
Pyruvate kinase deficiencyis transmitted asautosomal recessive. The condition is detected in infancy or childhood due to anemia, jaundice,splenomegaly, andgall stones. The severity of the condition is widely variable, even among patients with the same level of deficiency. Fluorescent screening tests are...
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...
Pyruvate Kinase Deficiency Complicating Pregnancy. Obstet Gynecol 2007;109(2 Pt2):553 -5Wax J, Pinette M, Cartin A, Blackstone J. Pyruvate kinase deficiency compli- cating pregnancy. Obstet Gynecol 2007;109:553-555.Wax J, Pinette M, Cartin A, Blackstone J. Pyruvate kinase deficiency ...
4) keto acid decarboxylase deficiency 酮酸脱羧酶缺乏症5) adenylate kinase deficiency 腺苷酸激酶缺乏症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...
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, ...
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...
Pyruvate kinase deficiency is one of the most common enzymatic defects of the erythrocyte. This disorder manifests clinically as a hemolytic anemia, with its clinical severity ranging from a mildly compensated anemia to severe anemia of childhood.