Jos Jansen

Chapter 1 Introduction to hepatic congenital glycosylation disorders	9
Chapter 2 CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation	27
Chapter 3 TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation	65
Chapter 4 NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects	87
Chapter 5 Screening for Abnormal Glycosylation in a Cohort of Adult Liver Disease Patients	109
Chapter 6 Discussion	131
English summary	150
Nederlandse samenvatting	152
Dankwoord	154
Curriculum vitae	158
List of publications	159
Research data management	160
PhD portfolio	161

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