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Article

Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.

British journal of haematology - 1 Apr 2006

Zanella Alberto, Bianchi Paola, Fermo Elisa, Valentini Giovanna

Abstract excerpt

Hereditary pyrimidine 5'-nucleotidase (P5'N) deficiency is the most frequent abnormality of the red cell nucleotide metabolism causing hereditary non-spherocytic haemolytic anaemia. The disorder is usually characterised by mild-to-moderate haemolytic anaemia associated with the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The precise mechanisms leading to the destruction...

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Identifiers

PMID: 16611302
DOI: 10.1111/j.1365-2141.2006.05992.x

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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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