Jos Jansen

A 159 Appendices List of publications Jansen JC , van Hoek B, Metselaar HJ, van den Berg AP, Zijlstra F, Huijben K, van Scherpenzeel M, Drenth JPH, Lefeber DJ. Screening for abnormal glycosylation in a cohort of adult liver disease patients. Journal of inherited metabolic disease. 2020. Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, Le Meur G, Ryan M, Czarnowska E, Jansen JC , He M, Ficicioglu C, Pichurin P, Hasadsri L, Rios-Ocampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ. sMutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease. Hepatology. 2020. Jansen JC , Wolthuis D, Van Scherpenzeel M, Ratziu V, Drenth JPH, Lefeber DJ. NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects. Cell Mol Gastroenterol Hepatol. 2018;5(3):415-7 e1. Jansen JC , Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Perez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Perez-Cerda C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. American journal of human genetics. 2016;98(2):310-21. Jansen JC , Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. 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. Jansen JC , van Dop WA, Fockens P, Lowenberg M. Acute upper abdominal pain after excessive vomiting: Boerhaave’s syndrome. Nederlands tijdschrift voor geneeskunde. 2013;157(35):A6374.