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Article

Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.

Medicina clinica - 6 Jan 2017

Montllor Laura, Mañú-Pereira María Del Mar, Llaudet-Planas Esther, Gómez Ramírez Pilar, Sevilla Navarro Julián, Vives-Corrons Joan Lluís

Abstract excerpt

BACKGROUND AND OBJECTIVE: Pyruvate kinase deficiency (PKD) is a rare, inherited disease causing chronic hemolysis and anemia of varying intensity. The genetic heterogeneity of PKD is high and, to this day, over 240 different mutations have been identified. PATIENTS AND METHODS: 15 unrelated patients affected by PKD have been studied. PKLR gene sequencing was performed by SANGER, including the determination of...

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Source

Identifiers

PMID: 27871768
DOI: 10.1016/j.medcli.2016.10.004

Genes

PKLR

Variants

Provenance

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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