Associated Papers
Recognition of a novel variant of phosphoglycerate kinase 1 deficiency PGK1 Galveston (c.472G > C) in a child with hemolytic anemia, neurologic dysfunction and myopathy.
Gutierrez E et al.
Pediatric Hematology and Oncology, 2023
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
Select a paper to view details