Article
Red cell enzymopathies as a model of inborn errors of metabolism.
The Southeast Asian journal of tropical medicine and public health - 1 Jan 1995
Miwa S, Kanno H, Hirono A, Fujii H
Abstract excerpt
The molecular abnormalities of erythroenzymopathies associated with hereditary hemolytic anemia have been determined using molecular techniques. Pyruvate kinase (PK) deficiency is the most common and well-characterized enzyme deficiency involving the glycolytic pathway and causing hereditary hemolytic anemia. We have identified six distinct missense mutations and a form of splicing mutation in 11 unrelated...
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