Article
Red cell pyruvate kinase deficiency in Southern Sardinia.
Blood cells, molecules & diseases - 15 Dec 2010
Perseu L, Giagu N, Satta S, Sollaino M C, Congiu R, Galanello R
Abstract excerpt
Pyruvate kinase (PK) deficiency is the most frequent red cell enzymatic defect responsible for hereditary non-spherocytic hemolytic anemia. The clinical picture is quite variable and the reasons of this variability have been only partially clarified. We report the clinical description and the extended molecular analysis in 3 PK deficient patients with clinical phenotype of variable severity. We studied the...
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