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Articles

Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit)

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Pages 302-308 | Received 23 May 2019, Accepted 29 Jun 2019, Published online: 19 Aug 2019

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Edgar Gutierrez, Mathew G. Bayes, Jayati Mallick, Liesel Dell’osso, Kirill A. Lyapichev & Akila Muthukumar. (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. Pediatric Hematology and Oncology 40:1, pages 76-85.
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Kousuke Baba, Tokiko Fukuda, Mitsuru Furuta, Satoru Tada, Atsuko Imai, Yoshihiro Asano, Hideo Sugie, Masanori P. Takahashi & Hideki Mochizuki. (2022) A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review. Internal Medicine 61:23, pages 3589-3594.
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Ahmar Urooj Zaidi, Steven Buck, Manisha Gadgeel, Miguel Herrera-Martinez, Araathi Mohan, Kenya Johnson, Shruti Bagla, Robert M. Johnson & Yaddanapudi Ravindranath. (2020) Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis. Frontiers in Physiology 11.
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