Associated Papers
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
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
Echaniz-Laguna A et al.
Journal of Inherited Metabolic Disease, 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
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
Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency.
Coppens S et al.
Neuromuscular Disorders : Nmd, 2016
Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.
Valentini G et al.
Biomolecules, 2013
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.
Chiarelli LR et al.
Plos One, 2012
Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.
Shirakawa K et al.
Neurology, 2006
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