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A family with red cell pyrimidine 5'-nucleotidase deficiency.

作者信息

Ben-Bassat I, Brok-Simoni F, Kende G, Holtzmann F, Ramot B

出版信息

Blood. 1976 Jun;47(6):919-22.

PMID:1276472
Abstract

Congenital hemolytic anemia associated with pyrimidine 5'-nucleotidase deficiency is reported in two siblings. Both have had moderate chronic hemolytic anemia, splenomegaly, and jaundice since early infancy. The peripheral blood smear is characterized by striking red cell basophilic stippling. As this feature has been found in all previously reported cases, it should be the clue to the diagnosis.

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