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

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

Research output: Contribution to journal › Article › peer-review

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Medicine and Dentistry

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Biochemistry, Genetics and Molecular Biology