Jos Jansen

126 Chapter 5 References 1. Peanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, et al. Congenital Disorders of glycosylation (CDG): Quo vadis? European journal of medical genetics. 2018;61(11):643-63. 2. Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, et al. Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. Journal of inherited metabolic disease. 2017;40(2):195-207. 3. Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, et al. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. American journal of human genetics. 2016;98(2):310-21. 4. Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, et al. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. American journal of human genetics. 2016;98(2):322-30. 5. Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, et al. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nature communications. 2016;7:11600. 6. Rujano MA, Cannata Serio M, Panasyuk G, Peanne R, Reunert J, Rymen D, et al. Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. The Journal of experimental medicine. 2017;214(12):3707-29. 7. Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, et al. sMutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease. Hepatology. 2020. 8. Tsochatzis EA, Bosch J, Burroughs AK. Liver cirrhosis. Lancet. 2014;383(9930):1749-61. 9. Callewaert N, Van Vlierberghe H, Van Hecke A, Laroy W, Delanghe J, Contreras R. Noninvasive diagnosis of liver cirrhosis using DNA sequencer-based total serum protein glycomics. Nature medicine. 2004;10(4):429-34. 10. Blomme B, Van Steenkiste C, Callewaert N, Van Vlierberghe H. Alteration of protein glycosylation in liver diseases. Journal of hepatology. 2009;50(3):592-603. 11. Clarke JD, Novak P, Lake AD, Hardwick RN, Cherrington NJ. Impaired N-linked glycosylation of uptake and efflux transporters in human non-alcoholic fatty liver disease. Liver international : official journal of the International Association for the Study of the Liver. 2017;37(7):1074-81. 12. Culver EL, van de Bovenkamp FS, Derksen NIL, Koers J, Cargill T, Barnes E, et al. Unique patterns of glycosylation in immunoglobulin subclass G4-related disease and primary sclerosing cholangitis. Journal of gastroenterology and hepatology. 2019;34(10):1878-86. 13. Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, Dos Reis Ferreira V, Morava E, et al. The challenge of CDG diagnosis. Molecular genetics and metabolism. 2019;126(1):1-5. 14. Guillard M, Wada Y, Hansikova H, Yuasa I, Vesela K, Ondruskova N, et al. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I. Journal of inherited metabolic disease. 2011;34(4):901-6. 15. van Scherpenzeel M, Steenbergen G, Morava E, Wevers RA, Lefeber DJ. High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. Translational research : the journal of laboratory and clinical medicine. 2015;166(6):639-49 e1. 16. Lefeber DJ, Morava E, Jaeken J. How to find and diagnose a CDG due to defective N-glycosylation. Journal of inherited metabolic disease. 2011;34(4):849-52.