Recognition of a novel variant of phosphoglycerate kinase 1 deficiency<i>PGK1</i>Galveston (c.472G &gt; C) in a child with hemolytic anemia, neurologic dysfunction and myopathy

Gutierrez, Edgar; Bayes, Mathew G.; Mallick, Jayati; Dell’osso, Liesel; Lyapichev, Kirill A.; Muthukumar, Akila

doi:10.1080/08880018.2022.2072987

Pediatric Hematology and Oncology

2022

DOI: 10.1080/08880018.2022.2072987

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Recognition of a novel variant of phosphoglycerate kinase 1 deficiencyPGK1Galveston (c.472G > C) in a child with hemolytic anemia, neurologic dysfunction and myopathy

Edgar Gutierrez

Mathew G. Bayes

Jayati Mallick

et al.

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Isolated Hemolytic Anemia in Phosphoglycerate Kinase 1 Deficiency Associated with a Novel PGK1:c.746 A > G;p.(Asn249Ser) Variant

Jitani,

Patel,

Warang

et al. 2024

Indian J Hematol Blood Transfus

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Isolated Hemolytic Anemia in Phosphoglycerate Kinase 1 Deficiency Associated with a Novel PGK1:c.746 A > G;p.(Asn249Ser) Variant

Jitani,

Patel,

Warang

et al. 2024

Indian J Hematol Blood Transfus

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Recognition of a novel variant of phosphoglycerate kinase 1 deficiencyPGK1Galveston (c.472G > C) in a child with hemolytic anemia, neurologic dysfunction and myopathy

Cited by 1 publication

References 45 publications

Isolated Hemolytic Anemia in Phosphoglycerate Kinase 1 Deficiency Associated with a Novel PGK1:c.746 A > G;p.(Asn249Ser) Variant

Isolated Hemolytic Anemia in Phosphoglycerate Kinase 1 Deficiency Associated with a Novel PGK1:c.746 A > G;p.(Asn249Ser) Variant

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