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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease pyruvate kinase deficiency
Comorbidity C0002878|hemolytic anemia
Sentences 2
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.

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