all times indicated refer to Central European Time (CET, Berlin time)
09.00-09.15 | Introduction Fanny Mochel |
09.15-10.15 | Liver diseases, case discussions Annalisa Sechi |
10.15-11.00 | Liver transplantation, gene/RNA therapies of hepatic IEMs Margreet Wagenmakers |
11.00-11.30 | Coffee |
11.30-13.00 | Emergencies and metabolic diagnostics Elaine Murphy, Robin Lachmann and Amanda Lam |
13.00-14.00 | Lunch |
14.00-15.30 | Lysosomal storage disorders, therapies and case discussion Robin Lachmann |
15.30-16.30 | Diagnostic challenges of IEMs in adulthood David Cassiman, Mirjam Langeveld |
16.30-16.45 | Short break |
16.45-17.30 | PKU treatment in adulthood, cases and controversies Elaine Murphy, Mirjam Langeveld |
17.30-18.00 | Tasting session (dietician) Charlotte Ellerton |
08.30-10.30 | Neurological presentations of IEM, therapies and case discussions Fanny Mochel |
10.30-11.00 | Coffee |
11.00-12.00 | Metabolic forms of leukodystrophies, therapies and case discussions Fanny Mochel |
12.00-13.00 | Lunch |
13.00-14.30 | Neuromuscular diseases, therapies and case discussions Mirjam Langeveld |
14.30-14.45 | Short break |
14.45-15.45 | Mitochondrial disorders, case discussions Rita Horvath |
15.45-16.15 | Pregnancies in IEM, case discussions Elaine Murphy |
16.15 | Closing remarks and evaluation |