174 Chapter 9 15. Muller J, Pekrul I, Potzsch B, Berning B, Oldenburg J, Spannagl M. Laboratory Monitoring in EmicizumabTreated Persons with Hemophilia A. Thromb Haemost. 2019; 119: 1384-1393. 16. Lossl P, van de Waterbeemd M, Heck AJ. The diverse and expanding role of mass spectrometry in structural and molecular biology. EMBO J. 2016; 35: 2634-2657. 17. Zhang G, Annan RS, Carr SA, Neubert TA. Overview of peptide and protein analysis by mass spectrometry. Curr Protoc Protein Sci. 2010; Chapter 16: Unit16 11. 18. Altelaar AF, Munoz J, Heck AJ. Next-generation proteomics: towards an integrative view of proteome dynamics. Nat Rev Genet. 2013; 14: 35-48. 19. Rathore D, Faustino A, Schiel J, Pang E, Boyne M, Rogstad S. The role of mass spectrometry in the characterization of biologic protein products. Expert Rev Proteomics. 2018; 15: 431-449. 20. Amrani ME, Gerencser L, Huitema ADR, Hack CE, van Luin M, van der Elst KCM. A generic sample preparation method for the multiplex analysis of seven therapeutic monoclonal antibodies in human plasma or serum with liquid chromatography-tandem mass spectrometry. J Chromatogr A. 2021; 1655: 462489. 21. Blanchette VS, Srivastava A. Definitions in hemophilia: resolved and unresolved issues. Semin Thromb Hemost. 2015; 41: 819-825. 22. Biggs R, Macfarlane RG. Haemophilia and related conditions: a survey of 187 cases. Br J Haematol. 1958; 4: 1-27. 23. Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van den Berg HM, Srivastava A, Subcommittee on Factor Viii FIX, Rare Coagulation Disorders of the S, Standardization Committee of the International Society on T, Hemostasis. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost. 2014; 12: 1935-1939. 24. Franchini M, Mannucci PM. Modifiers of clinical phenotype in severe congenital hemophilia. Thromb Res. 2017; 156: 60-64. 25. Jayandharan GR, Srivastava A. The phenotypic heterogeneity of severe hemophilia. Semin Thromb Hemost. 2008; 34: 128-141. 26. Pavlova A, Oldenburg J. Defining severity of hemophilia: more than factor levels. Semin Thromb Hemost. 2013; 39: 702-710. 27. van den Berg HM, De Groot PH, Fischer K. Phenotypic heterogeneity in severe hemophilia. J Thromb Haemost. 2007; 5: 151-156. 28. Pavlova A, Delev D, Pezeshkpoor B, Muller J, Oldenburg J. Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays. Thromb Haemost. 2014; 111: 851-861. 29. Bowyer AE, Van Veen JJ, Goodeve AC, Kitchen S, Makris M. Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. Haematologica. 2013; 98: 1980-1987. 30. Armstrong E, Hillarp A. Assay discrepancy in mild haemophilia A. Eur J Haematol Suppl. 2014; 76: 48-50. 31. Valikhani A, Mirakhorly M, Namvar A, Rastegarlari G, Toogeh G, Shirayeh FV, Ahmadinejad M. Genetic analysis of non-severe hemophilia A phenotype with A discrepancy between one-stage and chromogenic factor VIII activity assays. Transfus Apher Sci. 2021; 60: 103194. 32. RIVM. De ziekten die de hielprik opspoort. https://www.pns.nl/hielprik/ziekten-die-hielprik-opspoort. Accessed on 1 juni 2022.
RkJQdWJsaXNoZXIy MTk4NDMw