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Results: 2

1.

Deficiency of pyruvate kinase

An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia. [from NCI]

MedGen UID:
473069
Concept ID:
C0340968
Disease or Syndrome
2.

Pyruvate kinase deficiency

Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway (Zanella et al., 2005). [from OMIM]

MedGen UID:
336607
Concept ID:
C1849472
Disease or Syndrome

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