Hepatic Glycogen Storage Diseases
| Wednesday 19.10.2022 | |
|---|---|
| 18:30-20:00 | Satellite Symposium - supported by Sanofi-Aventis Deutschland GmbH 30 Jahre Erfolgsgeschichte der Enzymersatztherapie (ERT) |
| 18:45-19:05 | Ursache unklarer Symptome? ASMD - Eine weitere Indikation im Portfolio einer seltenen Erkrankung |
| 19:05-19:40 | Erste kausale Therapie mit Olipudase alfa |
| 19:40-20:00 | Gemeinsame Diskussion & Ausblick |
| in parallel with | |
| 19:00-20:00 | Satellite Symposium - supported by Vitaflo Deutschland GmbH Ketotische Glykogenosen: Grundlagen und Behandlung |
| from 20:00 | Get together with poster walk |
| Thursday 20.10.2022 | |
|---|---|
| 08:30-08:40 | Welcome |
| 08:40-10:10 | Hepatic GSDs: Clinical overview |
| 08:40-09:15 | The phenotypic spectrum of hepatic GSDs in children: from symptom to diagnosis |
| 09:15-09:45 | Aging with a hepatic GSD - - - complications in adulthood |
| 09:45-10:10 | Continous glucose monitoring in patients with hepatic GSDs |
| 10:40-12:30 | Understanding pathophysiological mechanisms |
| 10:40-11:10 | Glycogen metabolism and its genetic defects |
| 11:10-11:40 | Pathophysiological mechanism of neutropenia in GSD Ib |
| 11:40-12:05 | Discovering new pathways in GSD type 1 |
| 12:05-12:30 | Assessment of endogenous glucose production in glycogen storage disease type I using stable isotopes |
| 13:45-15.00 | Free Communications |
| FC01-01 | First stereotactic application of eladocagene exuparvovec into the putamen of a 3-year-old AADC-patient in Germany |
| FC01-02 | Rosa canina L. extract can normalize the lipid profile and protein trafficking of various Niemann-Pick C1 gene mutations |
| FC01-03 | Pathomechanism of CALFAN syndrome |
| FC01-04 | Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening |
| FC01-05 | Analysis of emotional & cognitive resources of patients with hyperphenylalaninemia (HPA) |
| FC01-06 | Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria |
| FC01-07 | Changes in the care of adult PKU patients due to the COVID-19 pandemic: a retrospective review of the past 2 pandemic years. |
| 15:30-17:00 | APS General Meeting |
| 17:15-19:15 | Social Event (City Tour) |
| from 20:00 | APS Dinner |
| Friday 21.10.2022 | |
|---|---|
| 08:30 - 09:45 | Free Communications II |
| FC02-01 | aRgus: a versatile tool for variant visualization and advanced prediction score modeling in inherited metabolic diseases |
| FC02-02 | A network medicine approach identifies key TCA cycle enzymes as potential therapeutic targets in organic acidemias |
| FC02-03 | Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency, 2005-2021 in Germany: limit of newborn screening |
| FC02-04 | Feasibility of glycosylation analysis from newborn screening cards: a case series |
| FC02-05 | Metabolic profiling and mitochondrial function in hepatic glycogen storage diseases- a fibroblast study |
| FC02-06 | Heterozygosity for glycogen storage disease type IIIa might add to the risk for developing type 2 diabetes |
| FC02-07 | Evaluation of vascular dysfunction and risk of atherosclerosis in patients with glycogen storage disease type I |
| 10:15 - 11:15 | Living with a hepatic GSD |
| 10:15-10:45 | Challenges and opportunities of living with a hepatic GSD |
| 10:45-11:15 | Priorty setting partnership for glycogen storage diseases: cooperation of doctors and patients Terry Derks, Groningen, NL |
| 11:15-11:45 | |
| 11:45-13:05 | Treating Hepatic GSDs: new approaches |
| 11:45-12:10 | Starch treatment in hepatic glycogen storage disorders |
| 12:10-12:35 | SGLT2 inhibitors in neutropenia of GSD1b |
| 12:35-13:05 | The different types of gene therapy in hepatic GSDs |
| 13:05-13:20 | Prizes, Farewell, Invitation for APS 2023 |
| 13:30-14:20 | Junge Stoffwechselmedizin (JSM) |
| from 14:30 | APS Seminar |
