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Article

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

Experimental hematology - 1 Aug 2007

Abrusci Patrizia, Chiarelli Laurent R, Galizzi Alessandro, Fermo Elisa, Bianchi Paola, Zanella Alberto, Valentini Giovanna

Abstract excerpt

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 low enzyme activity in red blood cells and detection of mutations in AK1 gene. To investigate the molecular bases of...

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Identifiers

PMID: 17662886
DOI: 10.1016/j.exphem.2007.05.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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