eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pyruvate kinase deficiency |
| Comorbidity | C0340968|pyruvate kinase deficiency |
| Sentences | 4 |
| PubMedID- 24086942 | Three different types of rbc enzymopathies, namely, glucose 6-phosphate dehydrogenase deficiency, pyruvate kinase deficiency, and enolase deficiency, were detected in a previous study in korea. |
| PubMedID- 20467559 | pyruvate kinase deficiency results in defective glycolysis resulting in erythroblast apoptosis and peripheral blood hemolysis [28, 29]. |
| PubMedID- 20531941 | For example the protective aspect of pyruvate kinase deficiency was first identified in the mouse model [34] and has subsequently been linked to resistance in human populations as well [35]. |
| PubMedID- 23223198 | Fv vectors have corrected leukocyte adhesion deficiency and pyruvate kinase deficiency in the dog large animal model. |
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