Jos Jansen

Table of Contents Chapter 1 Introduction to hepatic congenital glycosylation disorders 9 Chapter 2 CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation Am J Hum Genet. 2016 Feb 4;98(2):310-21 27 Chapter 3 TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation Am J Hum Genet. 2016 Feb 4;98(2):322-30 65 Chapter 4 NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects Cell Mol Gastroenterol Hepatol. 2018 Jan 18;5(3):415- 417.e1 87 Chapter 5 Screening for Abnormal Glycosylation in a Cohort of Adult Liver Disease Patients J Inherit Metab Dis. 2020 Jun 18 109 Chapter 6 Discussion 131 Appendices English summary Nederlandse samenvatting Dankwoord Curriculum vitae List of publications Research data management PhD portfolio 150 152 154 158 159 160 161