Scientific Programme
Programme
You can find an overview of the preliminary program below.
| Day 1 | Tuesday 3 September 2019 |
|---|---|
| 12:30-14:00 de Doelen | Welcome Lunch |
| 14.00-14.30 Grote Zaal | Opening Ceremony SSIEM 2019 Chair: A. van der Ploeg |
| 14.30-16.00 Grote Zaal | Plenary Session 1: Building Bridges Chairs: J. Smeitink (Nijmegen, The Netherlands), H. Michelakakis (Athens, Greece), G. Salomons (Amsterdam, The Netherlands) |
| 14.30-15.00 | Organoids as models of human disease Hans Clevers (Utrecht, The Netherlands) |
| 15.00-15.30 | The role of DNA damage repair and transcription stress in aging and the impact of nutrition Jan Hoeijmakers (Rotterdam, The Netherlands) |
| 15.30-16.00 | The lysosome as a control center of cell metabolism Andrea Ballabio (Naples, Italy) |
| 16:00-16:30 | Coffee Break |
| 16.30-18.00 Grote Zaal | Plenary Session 2: RNA based therapy and Gene therapy Chairs: P. Pijnappel (Rotterdam, The Netherlands), F. Mingozzi (Philadelphia, USA) |
| 16.30-17.00 | AAV gene therapy for inherited diseases Alberto Auricchio (Naples, Italy) |
| 17.00-17.30 | HSC gene therapy for neurometabolic and neurodegenerative disorders Alessandra Biffi (Cambridge, USA) |
| 17.30-18.00 | Opportunities and challenges for RNA therapy development Annemieke Aartsma Rus (Leiden, The Netherlands) |
| 18:00-18:30 Grote Zaal | GARROD AWARD LECTURE Chair: E. Morava (Rochester, USA) |
| Urea cycle disorders: of ammonia, dialysis and future directions of management Johannes Häberle (Zurich, Switzerland) |
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| 18:30-20:30 | WELCOME RECEPTION |
| Day 2 | Wednesday 4 September 2019 | |||
|---|---|---|---|---|
| 9:00-10:30 | Parallel sessions 1A-1D | |||
| Grote Zaal | Parallel Session 1A: Gene therapy Chairs: G. Ronzitti (Évry, France), A. Auricchio (Naples, Italy) | |||
| 09:00-09:15 | O-018 | A phase 1/2 clinical trial of AAV8 gene therapy in adults with late-onset OTC deficiency: CAPtivate cohort 1 + 2 results T. Geberhiwot (Birmingham, United Kingdom) | |||
| 09:15-09:30 | O-021 | Hematopoietic stem cell gene therapy for Mucopolysaccharidosis type I, Hurler variant (MPS-IH) M.E. Bernardo (Milan, Italy) | |||
| 09:30-09:45 | O-016 | Lentiviral (LV) hematopoietic stem cell gene therapy (HSC-GT) for metachromatic leukodystrophy (MLD) provides sustained clinical benefit V. Calbi (Milan, Italy) | |||
| 09:45-10:00 | O-019 | Three year open label phase 2a investigation of venglustat safety and exploratory efficacy in classic Fabry patients P. Deegan (Cambridge, United Kingdom) | |||
| 10:00-10:15 | O-015 | Positive cohort 1 results from the phase 1/2, AAV8-mediated liver-directed gene therapy trial in glycogen storage disease type Ia (GSDIa) T.G.D. Derks (Groningen, The Netherlands) | |||
| 10:15-10:30 | O-020 | AAV Gene Therapy For Glycogen Storage Disease Type 3 V.P. Vidal (Evry, France) | |||
| Willem Burger Zaal | Parallel Session 1B: Amino acid disorders (including PKU) and urea cycle disorders Chairs: S. Grunewald (London, United Kingdom), F. van Spronsen (Groningen, The Netherlands) | |||
| 09:00-09:15 | O-030 | Targeting CPS1: From CPS1 deficiency to lung tumor regression G. Makris (Zurich, Switzerland) | |||
| 09:15-09:30 | O-032 | Enhancement of hepatic autophagy for therapy of argininosuccinic aciduria L.R. Soria (Pozzuoli, Italy) | |||
| 09:30-09:45 | O-029 | First crystal structure of DHTKD1 provides insight into catalysis and disorders of lysine metabolism G.A. Bezerra (Oxford, United Kingdom) | |||
| 09:45-10:00 | O-027 | A Phase 1/2a Oral Placebo-controlled Study of SYNB1618 in Healthy Adult Volunteers and Subjects with Phenylketonuria J. Vockley (Pittsburgh, USA) | |||
| 10:00-10:15 | O-031 | Pharmacologic rescue of hyperammonemia-induced neurotoxicity by OAT-inhibition in a zebrafish model of acute hyperammonemic encephalopathy M. Zielonka (Heidelberg, Germany) | |||
| 10:15-10:30 | O-028 | Manipulating folate metabolism achieves near-normal homocysteine without methionine restriction in homocystinuric mice K.N. MacLean (Aurora, USA) | |||
| Jurriaanse Zaal | Parallel Session 1C: Glycosylation and carbohydrate disorders Chairs: D. Lefeber (Nijmegen, The Netherlands), D. Quelhas (Porto, Portugal) | |||
| 09:00-09:15 | O-065 | D-galactose supplementation in SLC35A2-CDG leads to clinical and biochemical improvement P. Witters (Leuven, Belgium) | |||
| 09:15-09:30 | O-062 | Crystal structure of human PMM2 enzyme as a model to evaluate missense variants amenable to be rescued using pharmacological chaperones A. Briso-Montiano (Madrid, Spain) | |||
| 09:30-09:45 | O-064 | Glycoproteomics for improved diagnosis of the Congenital Disorders of Glycosylation (CDG) M.A. Post (Nijmegen, The Netherlands) | |||
| 09:45-10:00 | O-063 | Using tracer metabolomics to investigate metabolic effects of galactose in different CDG S. Radenkovic (Leuven, Belgium) | |||
| 10:00-10:15 | O-039 | Nucleotide sugar profile in the galactosemia zebrafish model reveals new pathogenic mechanisms and potential readouts M.E. Rubio-Gozalbo (Maastricht, The Netherlands) | |||
| 10:15-10:30 | O-038 | Biallelic GALM pathogenic variants cause type IV galactosemia Y.W. Wada (Sendai, Japan) | |||
| Van Weelde Zaal | Parallel Session 1D: Disorders of haem biosynthesis, vitamins, purines and pyrimidines Chairs: P. Mills (London, United Kingdom), A. Garcia Cazorla (Barcelona, Spain) | |||
| 09:00-09:15 | O-068 | New insights in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency from zebrafish and cell models J. Ciapaite (Utrecht, The Netherlands) | |||
| 09:15-09:30 | O-070 | Gamma aminobutyric acid and tricarboxylic acid pathways in knock-out aldh7a1 zebrafish for pyridoxine-dependent epilepsy S. Mercimek-Andrews (Toronto, Canada) | |||
| 09:30-09:45 | O-069 | PLPHP deficiency: Clinical, genetic, biochemical, and mechanistic insights C.D. van Karnebeek (Amsterdam, The Netherlands) | |||
| 09:45-10:00 | O-050 | Clinical effectiveness of afamelanotide in patients with erythropoietic protoporphyria: an observational study D. Wensink (Rotterdam, The Netherlands) | |||
| 10:00-10:15 | O-066 | Induced pluripotent stem cells (iPSCs) and iPSC-derived cerebral organoids as a model of Succinic Semialdehyde Dehydrogenase Deficiency H. Brennenstuhl (Heidelberg, Germany) | |||
| 10:15-10:30 | O-049 | Thymidylate kinase deficiency due to mutations in TYMK is the cause of a novel vanishing white matter disease. J. Bierau (Maastricht, The Netherlands) | |||
| 10:30-11:00 | Coffee Break | |||
| 11.00-12.30 Grote Zaal | Plenary Session 3: Regenerative medicine Chairs: G. Schaaf (Rotterdam, The Netherlands), J. Häberle (Zurich, Switzerland) | |||
| 11.00-11.30 | Hurdles in successful examples of stem cell-based regenerative medicine Graziella Pellegrini (Modena, Italy) | |||
| 11.30-12.00 | On Ex vivo gene editing studies with human hepatocytes form patients with urea cycle defects Stephen Strom (Stockholm, Sweden) | |||
| 12.00-12.30 | Human induced pluripotent stem cells come of age in modeling cardiovascular disease Christine Mummery (Leiden, The Netherlands) | |||
| 12:30-14:30 | LUNCH / POSTER VIEWING | |||
| 14:30-16:00 | Parallel sessions 2A-2C | |||
| Grote Zaal | Parallel Session 2A: Lysosomal storage disorders Chairs: M. del Toro (Barcelona, Spain), M. Scarpa (Heidelberg, Germany) | |||
| 14:30-14:45 | O-059 | Benefits of higher and more frequent dosing and immunomodulation on long-term outcome in classic infantile Pompe disease E. Poelman (Rotterdam, The Netherlands) | |||
| 14:45-15:00 | O-057 | A natural disease history study and a meta-analysis of published cases improve clinical knowledge on Multiple Sulfatase Deficiency L. Schlotawa (Goettingen, Germany) | |||
| 15:00-15:15 | O-055 | Acid ceramidase deficiency presenting as Farber disease: prospective and retrospective clinical data from an ongoing natural history study P. Harmatz (Oakland, USA) | |||
| 15:15-15:30 | O-056 | Persistent treatment effect of cerliponase alfa in children with CLN2 disease: A 3 year update from an ongoing multicenter extension study A. Schulz (Hamburg, Germany) | |||
| 15:30-15:45 | O-054 | Losartan or Propanolol treatment restores Erk1/2 activity during the cardiac remodelling of mucopolysaccharidosis type-I mice E. A. Gonzalez (Porto Alegre, Brazil) | |||
| 15:45-16:00 | O-061 | Intrathecal VTS-270 For The Treatment Of Niemann-Pick Disease, Type C1 P. Gissen (London, United Kingdom) | |||
| Willem Burger Zaal | Parallel Session 2B: Advances in diagnostics (including omics) Chairs: A. Ribes (Barcelona, Spain), B. Plecko (Zürich, Switzerland) | |||
| 14:30-14:45 | O-014 | The ‘Cryo-Electron Microscopy Revolution' for structure determination of metabolic enzyme complexes H. J. Bailey (Oxford, United Kingdom) | |||
| 14:45-15:00 | O-012 | Discovery of novel antiquitin deficiency biomarkers through the combination of untargeted metabolomics and infrared ion spectroscopy. K.L.M. Coene (Nijmegen, The Netherlands) | |||
| 15:00-15:15 | O-013 | The Impact of Mitochondrial Bioenergetics on Metabolic Pathways by Real-time NMR of 3D Cell Cultures D.H. Hertig niti (Bern, Switzerland) | |||
| 15:15-15:30 | O-009 | Multiplex testing for the diagnosis of disorders involving sulfatide degradation G.Pino(Rochester, USA) | |||
| 15:30-15:45 | O-010 | Algorithms for interpretation of (multi)-omics in metabolic diagnostics J.J.M. Jans (Utrecht, The Netherlands) | |||
| 15:45-16:00 | O-011 | Mitochondrial DNA mutation analysis from exome sequencing - a holistic approach in diagnostics of mitochondrial disease M.Wagner(Munich, Germany) | |||
| Jurriaanse Zaal | Parallel Session 2C: Nutrition and Dietetics Chairs: E. van der Louw (Rotterdam, The Netherlands), S. Grünert (Freiburg, Germany) | |||
| 14:30-15:00 | Update Lecture: Working mechanism of ketogenic diet J. Rho (San Diego, USA) | |||
| 15:00-15:15 | O-024 | Outcome after liver transplantation in paediatric IMD- survival, growth and hospital admissions experience from one centre A. Daly (Birmingham, United Kingdom) | |||
| 15:15-15:30 | O-023 | The dietetic and biochemical basis of trimethylaminuria in one Adult Metabolic Centre. J. Banks (Salford, United Kingdom) | |||
| 15:30-15:45 | O-026 | Arginine supplementation's impact on lysine metabolism in humans: A proof-of-concept for lysine-related inborn errors of metabolism Z. Schmidt (Vancouver, Canada) | |||
| 15:45-16:00 | O-025 | MyRareDiet®: A diet tracking and monitoring mHEALTH tool for research and clinical care for patients with inborn errors of metabolism. D. G. Hook (Davis, USA) | |||
| 16:00-16:30 | Coffee break | |||
| 16.30-18.00 Grote Zaal | Plenary Session 4: Mitochondrial disorders Chairs: J. Smeitink (Nijmegen, The Netherlands), C. Dionisi-Vici (Rome, Italy) | |||
| 16.30-17.00 | Moving towards clinical trials for mitochondrial disease Shamima Rahman (London, United Kingdom) | |||
| 17.00-17.30 | The Pursuit of Precision Mitochondrial Medicine: Harnessing pre-clinical and animal models of mitochondrial disease Marni J. Falk (Philadelphia, USA) | |||
| 17.30-18.00 | Mitochondria in Alzheimer disease: It's not what you think Eric A Schon (New York, USA) | |||
| 18:00 - 20:00 | POSTER WALK | |||
| Day 3 | Thursday 5 September 2019 | |||
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| 09.00-10.30 Grote Zaal | Plenary session 5: Metabolomics / System biology Chairs: G. Ruijter (Rotterdam, The Netherlands), V. Kozich (Prague, Czech Republic) | |||
| 09.00-09.30 | Modeling human metabolism in health and disease Ines Thiele (Galway, Ireland) | |||
| 09.30-10.00 | Innovative analytical tools for metabolomics-driven systems biology to investigate monogenetic and complex disorders Thomas Hankemeier (Leiden, The Netherlands) | |||
| 10.00-10.30 | Integrative network biology approaches to understand rare inborn errors of metabolism. Carmen Argmann (New York, USA) | |||
| 10:30-11:00 | Coffee break | |||
| 11:00-12:30 | Parallel sessions 3A-3D | |||
| Grote Zaal | Parallel Sessions 3A: Disorders of fatty acid oxidation and metabolic myopathies Chairs: Chairs: R. Wanders (Amsterdam, The Netherlands), J. Vockley (Pittsburgh, USA) | |||
| 11:00-11:30 | Update Lecture: Latest insights into metabolic myopathies P. Laforêt (Paris, France) | |||
| 11:30-11:45 | O-042 | A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency S. Ferdinandusse (Amsterdam, The Netherlands) | |||
| 11:45-12:00 | O-041 | Implication of post-translational modifications on ETF, a Multiple Acyl-CoA Dehydrogenase Deficiency related enzyme B. J. Henriques (Lisbon, Portugal) | |||
| 12:00-12:15 | O-008 | Novel genetic discoveries in 14 patients with multiple acyl-CoA dehydrogenation deficiency using whole exome sequencing and RNA-seq. S. Mosegaard (Aarhus, Denmark) | |||
| 12:15-12:30 | O-022 | Modified ketogenic diet in patients with Glycogen Storage Disease type V - a pilot study N. Loekken (Copenhagen, Denmark) | |||
| Willem Burger Zaal | Parallel Session 3B: Organic Acidurias Chairs: M. Williams (Rotterdam, The Netherlands), M. Baumgartner (Zürich, Switzerland) | |||
| 11:00-11:30 | Update Lecture: Organic acidurias - it's about time to bridge the gaps S. Kölker (Heidelberg, Germany) | |||
| 11:30-11:45 | O-036 | Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. D.S. Froese (Zurich, Switzerland) | |||
| 11:45-12:00 | O-034 | Long-term outcome of methylmalonic aciduria after kidney, liver or combined liver-kidney transplantation: the French experience A. B. Brassier (Paris, France) | |||
| 12:00-12:15 | O-033 | DHTKD1 and OGDH form a hybrid ketoacid dehydrogenase complex with functional redundancy toward α-ketoadipic acid J. Leandro (New York, USA) | |||
| 12:15-12:30 | O-037 | Metabolic liver disease in a tailored mouse model of mut-type methylmalonic aciduria M. Lucienne (Zurich, Switzerland) | |||
| Jurriaanse Zaal | Parallel Sessions 3C: Disease modeling Chairs: S. Fuchs (Utrecht, The Netherlands), C. van Karnebeek (Amsterdam, The Netherlands) | |||
| 11:00-11:15 | O-060 | Zebrafish as a model to study cystinosis: from pathophysiology to drug screening E. Levtchenko (Leuven, Belgium) | |||
| 11:15-11:30 | O-035 | Increased ammonium production and reduced appetite in a knock-in rat model for glutaric aciduria type I challenged with high lysine diet M.G.M. Gonzalez-Melo (Lausanne, Switzerland) | |||
| 11:30-11:45 | O-040 | CRISPR/Cas9-mediated editing of hepatic G6pc in mice allows to investigate the clinical spectrum of glycogen storage disease type Ia M.G. S. Rutten (Groningen, The Netherlands) | |||
| 11:45-12:00 | O-073 | Molecular and metabolic consequences of renal carnosinase deficiency V. Peters (Heidelberg, Germany) | |||
| 12:00-12:15 | O-045 | Brain on a chip; disease modeling and drug screening in a neurophysiological model of MELAS disease T. Kozicz (Rochester, USA) | |||
| 12:15-12:30 | O-017 | Engineered human iPSC-derived skeletal muscles to model Pompe disease P. Herrero-Hernandez (Rotterdam, The Netherlands) | |||
| Van Weelde Zaal | Parallel Sessions 3D: Patient cohorts and follow-up Chairs: H. Huidekoper (Rotterdam, The Netherlands), J. Hennermann (Mainz, Germany) | |||
| 11:00-11:15 | O-076 | Patterns of abnormal movements in neonatal inborn errors of metabolism: study following videofilmation analysis and volumetric brain MRI A. Darling (Barcelona, Spain) | |||
| 11:15-11:30 | O-077 | Genotype-phenotype correlation and natural history in NBAS deficiency D. Lenz (Heidelberg, Germany) | |||
| 11:30-11:45 | O-058 | Follow-up of patients identified by MPS I newborn screening D. Gueraldi (Padova, Italy) | |||
| 11:45-12:00 | O-067 | Very long-term follow-up of a series of patients with CblA deficiency C. Marelli(Montepellier, France) | |||
| 12:00-12:15 | O-052 | PEX12 gene mutation causing a peroxisomal biogenesis disorder among Egyptian patients with founder mutations M. S. Zaki (Cairo, Egypt) | |||
| 12:15-12:30 | O-051 | Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency A. Madeo (Genoa, Italy) | |||
| 12:30-14:00 | LUNCH / POSTER VIEWING | |||
| 14:00-15:30 | Parallel sessions 4A-4D / EDUCATIONAL SESSION | |||
| Grote Zaal | Parallel Session 4A: Mitochondrial disorders Chairs: M. Janssen (Nijmegen, The Netherlands), S. Wortmann (Salzburg, Austria) | |||
| 14:00-14:15 | O-046 | KGD4 biallelic variants in two siblings with bilateral striatal necrosis: a new gene of Krebs cycle associated with Leigh syndrome S. Galosi (Rome, Italy) | |||
| 14:15-14:30 | O-048 - Interferon signature: a new biomarker to follow disease progression in Pearson and Kearns-Sayre syndrome D. Martinelli (Rome, Italy) | |||
| 14:30-14:45 | O-078 | Assay for simultaneous evaluation of aminoacyl-tRNA synthetase activities: application to mitochondrial aspartyl tRNA synthetase M. I. Mendes (Amsterdam, The Netherlands) | |||
| 14:45-15:00 | O-047 | No effect of Resveratrol supplementation in patients with mitochondrial myopathy - a randomized, double-blind, cross-over study N. Loekken (Copenhagen, Denmark) | |||
| 15:00-15:15 | O-001 | A six year prospective follow-up study in 151 carriers of the m.3243A>G mutation. P. De Laat (Nijmegen, The Netherlands) | |||
| 15:15-15:30 | O-044 | Mutations in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease J. L. K. Van Hove (Aurora, USA) | |||
| Willem Burger Zaal | Parallel Session 4B: EDUCATIONAL SESSION: CRISPR/CAS Chairs: P. Pijnappel (Rotterdam, The Netherlands), R. Hoeben (Leiden, The Netherlands) | |||
| 14:00-14:30 | Basics and clinical applications of gene editing: hopes, hypes and hurdles R. Hoeben (Leiden, The Netherlands) | |||
| 14:30-15:00 | Improving gene editing outcomes: separating the good from the bad and ugly M. Goncalves (Leiden, The Netherlands) | |||
| 15:00-15:30 | A bright future for plant genome editing: implications for global food production and societies S. Smeekens (Utrecht, The Netherlands | |||
| Jurriaanse Zaal | Parallel Session 4C: Metabolic disorders in adults Chairs: M. Wagenmakers (Rotterdam, The Netherlands), E. Murphy (London, United Kingdom) | |||
| 14:00-14:15 | O-003 | Eye movement disorders as an aid to early detection of late-onset inborn errors of metabolism L. H. Koens (Groningen, The Netherlands) | |||
| 14:15-14:30 | O-002 | Does nitisinone modify ochronosis in alkaptonuria - experience from the United Kingdom National Alkaptonuria Centre L. Ranganath (Liverpool, United Kingdom) | |||
| 14:30-14:45 | O-006 | Atypical cerebral palsy: yield of genetic diagnostics in the adult metabolic disease clinic G. Horvath (Vancouver, Canada) | |||
| 14:45-15:00 | O-005 | Longitudinal cohort study of cardiac complications in Fabry disease M. Langeveld (Amsterdam, The Netherlands) | |||
| 15:00-15:15 | O-007 | Metabolic control modulates neuropsychiatric involvement, brain damage and neurodegenerative markers in adult Phenylketonuria patients A. Pilotto (Brescia, Italy) | |||
| 15:15-15:30 | O-004 | Are we failing to support the cognitive and mental health of adults with IMDs? Developing neuropsychology services in one Metabolic Centre. C. Chen (Salford, United Kingdom) | |||
| Van Weelde Zaal | Parallel Session 4D: Novel disease genes Chairs: K. Õunap (Tartu, Estonia), S. Andrews (Toronto, Canada) | |||
| 14:00-14:15 | O-075 | RINT1 biallelic variants cause a novel disorder of infantile onset recurrent acute liver failure and skeletal anomalies M. A. Cousin (Rochester, USA) | |||
| 14:15-14:30 | O-071 | Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia F. M. Vaz (Amsterdam, The Netherlands) | |||
| 14:30-14:45 | O-074 | Possible new peroxisomal disorder associated with IDI1 mutation and identified on global metabolomics study H. Alharbi (Los Angeles, USA) | |||
| 14:45-15:00 | O-072 | MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy M. H. Broeks (Utrecht, The Netherlands) | |||
| 15:00-15:15 | O-043 | Identification of mutations in mitochondrial ribosomal protein PTCD3 as a novel cause of Leigh syndrome Y. Sugiyama (Chiba, Japan) | |||
| 15:15-15:30 | O-053 | Identification of an autosomal dominant Zellweger Spectrum Disorder H. R. Waterham (Amsterdam, The Netherlands) | |||
| Day 4 | Friday 6 September 2019 |
|---|---|
| 09.00-10.30 Grote Zaal | Plenary Session 6: Lysosomes-Innovative insights Chairs: A. van der Ploeg (Rotterdam, The Netherlands), G. Parenti (Naples, Italy) |
| 09.00-09.30 | Disorders of lysosome-related organelle biogenesis Marjan Huizing (Bethesda, USA) |
| 9:30-10:00 | Challenges and concepts to combat diseases caused by deficiencies of lysosomal hydrolases and membrane proteins Paul Saftig (Kiel, Germany) |
| 10:00-10:30 | The future of therapies for Lysosomal disorders, lessons from the past Simon Jones (Manchester, United Kingdom) |
| 10:30-11:00 | Coffee break |
| 11:00-11:45 Grote Zaal | KOMROWER LECTURE Chair: Gajja Salomons |
| From fatty acid oxidation to riboflavin - Make metabolites great again! Christine Vianey-Saban (France) |
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| 12:00-13:00 Grote Zaal | Late Breaking News Session |
| 12:00-12:15 | LBN-1 Mutations in PDXK cause a polyneuropathy that responds to treatment with vitamin B6 Philippa Mills (London, United Kingdom) |
| 12:15-12:30 | LBN-2 Biallelic truncating SOD1 variants with loss of enzymatic activity: a novel neurometabolic disorder René Santer (Hamburg, Germany) |
| 12:30-12:45 | LBN-3 Treatment with an SGLT2 inhibitor improves neutropenia-related signs and symptoms in four GSD1b patients Saskia Wortmann (Salzburg, Austria) |
| 12:45-13:00 | LBN-4 DEGS1-Leukodystrophy, a novel disorder of sphingolipid metabolism impacts mitochondria dynamics Aurora Pujol (Barcelona, Spain) |
| 13:00-13:30 | Awards | Presentation | Closing remarks |
| 13:30-14:30 | Closing Lunch |