Phosphoglycerate Kinase 1 Deficiency
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1783-1
Reference11 articles.
1. Aasly J, van Diggelen OP, Boer AM, Brønstad G (2000) Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. Eur J Neurol 7:111–113. https://doi.org/10.1046/j.1468-1331.2000.00012.x
2. Baba K et al (2022) A mild clinical phenotype with myopathic and hemolytic forms of phosphoglycerate kinase deficiency (PGK Osaka): a case report and literature review. Internal Med 61:3589–3594. https://doi.org/10.2169/internalmedicine.9221-21
3. Behlmann AM, Goyal NA, Yang X, Chen PH, Ankala A (2019) A hemizygous deletion within the PGK1 gene in males with PGK1. Deficiency JIMD Rep 45:105–110. https://doi.org/10.1007/8904_2018_147
4. Beutler E (2007) PGK deficiency. Br J Haematol 136:3–11. https://doi.org/10.1111/j.1365-2141.2006.06351.x
5. Chiarelli LR, Morera SM, Bianchi P, Fermo E, Zanella A, Galizzi A, Valentini G (2012) Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. PLoS One 7:e32065. https://doi.org/10.1371/journal.pone.0032065
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