Jos Jansen

132 Chapter 6 The main aims of this dissertation were (1) identification and characterization of the pathogenic variants in families with abnormal Golgi glycosylation and a phenotype dominated by liver disease and (2) to explore glycosylation in liver disease. To accomplish these goals, the following research questions were postulated: 1. Can we find the pathogenic gene(s) in three families with abnormal glycosylation? 2. Can we correlate the phenotype of CCDC115 and TMEM199 deficiency to more common hepatic diseases? 3. Can screening in a pre-selected patient group identify patients with hepatic injury due to congenital glycosylation disorders? Answers to these research questions were provided in the chapters 2 to 5. In the next paragraphs each research question will be discussed separately followed by future perspectives and a research agenda.