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
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses.
Pey AL et al.
Journal of Inherited Metabolic Disease, 2014
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.
Valentini G et al.
Biomolecules, 2013
The interplay between protein stability and dynamics in conformational diseases: the case of hPGK1 deficiency.
Pey AL
Biochimica Et Biophysica Acta, 2013
Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency.
Pey AL et al.
Biochemistry, 2013
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.
Chiarelli LR et al.
Plos One, 2012
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.
Spiegel R et al.
Neuromuscular Disorders : Nmd, 2009
Select a paper to view details