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Article

Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis.

American journal of hematology - 1 Mar 2015

van Zwieten Rob, van Oirschot Brigitte A, Veldthuis Martijn, Dobbe Johannes G, Streekstra Geert J, van Solinge Wouter W, Schutgens Roger E G, van Wijk Richard

Abstract excerpt

In a family with mild dominant spherocytosis, affected members showed partial band 3 deficiency. The index patient showed more severe clinical symptoms than his relatives, and his red blood cells displayed concomitant low pyruvate kinase activity. We investigated the contribution of partial PK de...

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Share to Adenosine Triphosphate
Share to Anemia, Hemolytic, Congenital Nonspherocytic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Anion Exchange Protein 1, Erythrocyte

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Source

Identifiers

PMID: 25388786
DOI: 10.1002/ajh.23899

Genes

PKLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25388786-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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