eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pyruvate kinase deficiency |
| Symptom | C0002871|anemia |
| Sentences | 3 |
| 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- 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- 23770304 | We studied the pk-lr gene in 10 unrelated indian patients with congenital haemolytic anemia associated with erythrocyte pyruvate kinase deficiency. |
Page: 1