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Last Updated: 10/31/2025
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Found 99 publications
First Report of Phosphoglycerate Kinase Deficiency in a Dinè Child With Review of Current Literature.
Journal: American journal of medical genetics. Part A
Published: December 26, 2024
Isolated Hemolytic Anemia in Phosphoglycerate Kinase 1 Deficiency Associated with a Novel PGK1:c.746 A > G;p.(Asn249Ser) Variant.
Journal: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
Published: September 04, 2024
An atypical case of phosphoglycerate kinase deficiency with a novel PGK1 variant.
Journal: Seizure
Published: November 29, 2023
Anaesthesia Challenges for a Patient with Phosphoglycerate Kinase Deficiency Undergoing Open Gastrostomy Procedure: A Case Report.
Journal: Romanian journal of anaesthesia and intensive care
Published: February 27, 2023
Targeting the Glycolytic Enzyme PGK1 to Inhibit the Warburg Effect: A New Strategy for Keloid Therapy.
Journal: Plastic and reconstructive surgery
Published: February 02, 2023
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.
Journal: Pediatric hematology and oncology
Published: May 24, 2022
A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
Journal: Internal medicine (Tokyo, Japan)
Published: May 08, 2022
Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit).
Journal: Pediatric hematology and oncology
Published: August 20, 2019
Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P]).
Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P]).
Journal: Journal of pediatric hematology/oncology
Published: April 06, 2019
Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction.
Journal: Parkinsonism & related disorders
Published: February 04, 2019
Hyperammonaemia following exercise may also reveal PGK1 deficiency.
Journal: Journal of clinical pathology
Published: January 30, 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
Journal: Journal of inherited metabolic disease
Published: January 21, 2019
Last Updated: 10/31/2025