eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pyruvate kinase deficiency |
| Comorbidity | C0002871|anemia |
| Sentences | 4 |
| PubMedID- 22563238 | Acid β-glucosidase activity in a splenic homogenate prepared from a patient splenectomized for hemolytic anemia due to pyruvate kinase deficiency was 2.31 nmol/h/mg. |
| PubMedID- 26087744 | Over the last several decades, our understanding of the genetic variation, pathophysiology, and complications of the hemolytic anemia associated with red cell pyruvate kinase deficiency (pkd) has expanded. |
| PubMedID- 23078545 | In conclusion, ampd3 deficiency increases the level of atp in erythrocytes, but does not improve anemia due to pk deficiency and leads to erythrocyte dysfunction. |
| PubMedID- 23770304 | We studied the pk-lr gene in 10 unrelated indian patients with congenital haemolytic anemia associated with erythrocyte pyruvate kinase deficiency. |
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