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RSS FeedsA Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report (Journal of Medical Case Reports)

 
 

27 july 2021 09:18:27

 
A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report (Journal of Medical Case Reports)
 
Erythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total ad...


 
181 viewsCategory: Medicine
 
Hypertensive cerebral hemorrhage with undetectable plasma vascular endothelial growth factor levels in a patient receiving intravitreal injection of aflibercept for bilateral diabetic macular edema: a case report (Journal of Medical Case Reports)
Association of alcohol consumption with morbidity and mortality in patients with cardiovascular disease: original data and meta-analysis of 48,423 men and women (BMC Medicine)
 
 
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