Associated Papers
Isolated Hemolytic Anemia in Phosphoglycerate Kinase 1 Deficiency Associated with a Novel PGK1:c.746 A > G;p.(Asn249Ser) Variant.
Jitani A et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025
A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
Baba K et al.
Internal Medicine (tokyo, Japan), 2022
A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.
Garcia-Solaesa V et al.
Genes, 2019
Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit).
Zaidi AU et al.
Pediatric Hematology and Oncology, 2019
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.
Vissing J et al.
Neurology, 2018
A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.
Matsumaru S et al.
Intractable & Rare Diseases Research, 2017
Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy.
Tamai M et al.
International Journal of Hematology, 2014
Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.
Valentini G et al.
Biomolecules, 2013
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.
Fermo E et al.
Molecular Genetics and Metabolism, 2012
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