Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.

OBJECTIVE: Red cell adenylate kinase (AK) deficiency is a rare hereditary erythroenzymopathy associated with moderate to severe nonspherocytic hemolytic anemia and, in some cases, with mental retardation and psychomotor impairment. To date, diagnosis of AK deficiency depends upon demonstration of l...

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Bibliographic Details
Main Authors: Abrusci, P, Chiarelli, L, Galizzi, A, Fermo, E, Bianchi, P, Zanella, A, Valentini, G
Format: Journal article
Language:English
Published: 2007