References
- Park CM, Lee K, Jun S-H, Song SH, Song J. Ultra-performance liquid chromatography-tandem mass spectrometry-based multiplex enzyme assay for six enzymes associated with hereditary hemolytic anemia. J Chromatogr B Analyt Technol Biomed Life Sci. 2017;1060:76–83. doi:https://doi.org/10.1016/j.jchromb.2017.05.040.
- Uenaka R, Nakajima H, Noguchi T, et al. Compound heterozygous mutations affecting both hepatic and erythrocyte isozymes of pyruvate kinase. Biochem Biophys Res Commun. 1995;208(3):991–998. doi:https://doi.org/10.1006/bbrc.1995.1432.
- Richards S, ACMG Laboratory Quality Assurance Committee, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi:https://doi.org/10.1038/gim.2015.30.
- Kanno H, Fujuu H, Miwa S. Molecular heterogeneity of pyruvate kinase deficiency identified by single strand confirmational polymorphism (SSCP) analysis. Blood. 1994;84(Supp. l1):84.
- Park ES, Jung HL, Kim HJ, et al. Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology. Blood Res. 2013;48(3):211–216. doi:https://doi.org/10.5045/br.2013.48.3.211.
- Bianchi P, with the endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019;94(1):149–161. doi:https://doi.org/10.1002/ajh.25325.
- Grace RF, Cohen J, Egan S, et al. The burden of disease in pyruvate kinase deficiency: Patients’ perception of the impact on health-related quality of life. Eur J Haematol. 2018;101(6):758–765. doi:https://doi.org/10.1111/ejh.13128.
- Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018;131(20):2183–2192. doi:https://doi.org/10.1182/blood-2017-10-810796.
- Grace RF, Mark Layton D, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721–734. doi:https://doi.org/10.1111/bjh.15758.
- Kung C, Hixon J, Kosinski PA, et al. AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency. Blood. 2017;130(11):1347–1356. doi:https://doi.org/10.1182/blood-2016-11-753525.
- Grace RF, Rose C, Layton DM, et al. Safety and efficacy of mitapivat in pyruvate kinase deficiency. N Engl J Med. 2019;381(10):933–944. doi:https://doi.org/10.1056/NEJMoa1902678.
- Grace RF, Zanella A, Neufeld EJ, et al. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015;90(9):825–830. doi:https://doi.org/10.1002/ajh.24088.
- Canu G, De Bonis M, Minucci A, Capoluongo E. Red blood cell PK deficiency: An update of PK-LR gene mutation database. Blood Cells Mol Dis. 2016;57:100–109. doi:https://doi.org/10.1016/j.bcmd.2015.12.009.
- Baronciani L, Bianchi P, Zanella A. Hematologically important mutations: red cell pyruvate kinase (1st update). Blood Cells Mol Dis. 1996;22(3):259–264. doi:https://doi.org/10.1006/bcmd.1996.0107.