Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.

doi:10.1038/mt.2016.87

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Article

Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 Aug 2016

Garcia-Gomez Maria, Calabria Andrea, Garcia-Bravo Maria, Benedicenti Fabrizio, Kosinski Penelope, López-Manzaneda Sergio, Hill Collin, Del Mar Mañu-Pereira María, Martín Miguel A, Orman Israel, Vives-Corrons Joan-LLuis, Kung Charles, Schambach Axel, Jin Shengfang, Bueren Juan A, Montini Eugenio, Navarro Susana, Segovia Jose C

Abstract excerpt

Pyruvate kinase deficiency (PKD) is a monogenic metabolic disease caused by mutations in the PKLR gene that leads to hemolytic anemia of variable symptomatology and that can be fatal during the neonatal period. PKD recessive inheritance trait and its curative treatment by allogeneic bone marrow transplantation provide an ideal scenario for developing gene therapy approaches. Here, we provide a preclinical gene...

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Identifiers

PMID: 27138040
DOI: 10.1038/mt.2016.87
PMCID: PMC5088764

Genes

PKLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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