Article
A family case of pyruvate kinase variant, PK 'Nichinan'.
Japanese journal of medicine - 1 Jan 2000
Uno H, Sawano F, Fujii H, Miwa S, Tsuda K
Abstract excerpt
A case of congenital hemolytic anemia caused by pyruvate kinase (PK) deficiency variant designated PK 'Nichinan' is presented. A 29-old patient with a history of anemia and hepatosplenomegaly had an episode of aplastic crisis associated with fever, abdominal symptoms and worsening hepatosplenomegaly. Study of the family members revealed that his mother and two of three siblings showed decreased PK activity...
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