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...
Adiponectin deficiency in renal tubular epithelial cells disrupts lipid uptake and alters lipid distribution Adiponectin stimulates fatty acid oxidation through activation of AMP-activated protein kinase (AMPK) in myocytes45. Genes encoding key lipid uptake mediators are down-regulated in KSPAKO. In order...
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...
网络丙酮酸激酶缺乏症;丙酮酸鷼激酶缺乏;焦葡萄酸脢缺乏 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. ...
Pyruvate kinase (PK) is an enzyme involved in ATP production in the glycolytic pathway. PK deficiency is a rare, autosomal recessive disorder that manifests with hemolytic anemia of variable severity, partly due to an insufficiency of ATP production in erythrocytes. Its exact prevalence ...
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...
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...
This decreased PDH activity (Additional file 1: Figure S5b) but had no effect on cell growth in delipidated medium (Additional file 1: Figure S5c), indicating that PDH deficiency uncovers a dependence on extracellular lipids in some but not all cancer cells. Glutamine carbon supplies de novo...
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, ...
PKM: Pyruvate kinase qRT-PCR: Quantitative real-time polymerase chain reaction RIP: RNA binding protein immunoprecipitation SRSF3: Serine and arginine rich splicing factor 3 References Zhang Y, Tang B, Song J, Yu S, Li Y, Su H, He S. Lnc-PDZD7 contributes to stemness properties and...