Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia.
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Cited by 52 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review;Internal Medicine;2022-12-01
2. 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;Pediatric Hematology and Oncology;2022-05-24
3. A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population;Genes;2019-10-10
4. Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit);Pediatric Hematology and Oncology;2019-07-04
5. A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria;Intractable & Rare Diseases Research;2017
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