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1 Thursday, March 16 th 08:45 Welcome Address Isabel Tavares de Almeida, SPDM President 9:00-11:00 Session I The future of diagnostics for IEM Chairpersons: Ronald Wanders, Amsterdam, NL and Sérgio B. de Sousa, Coimbra, PT 9:00-9:20 The role of genomics: where are we going? Johannes Zschocke, Innsbruck, AT 9:25-9:45 Untargeted metabolomics in a diagnostic setting Judith Jans, Utrecht, NL 9:50 10:05 Invited short oral communication: Aminoacyl-tRNA synthetase defects: development of novel diagnostic strategies Marisa Mendes, Amsterdam, NL 10:05-10:20 Invited short oral communication: Biomarkers characterization in organic acidurias: development of a metabolomics platform Sara Violante, New York, USA 10:20 10:35 How to face big data - Open discussion Hugo Rocha, Porto, PT 10:40 11:10 Coffee break 11:10-13:00 Session II Lysosomal disorders Chairpersons: Anabela Oliveira, Lisboa, PT and Paula Garcia, Coimbra, PT 11:10-11:30 Cystinosis in adolescent and adult patient: recommendations for transition and the comprehensive care Gema Ariceta, Barcelona, SP 11:35-11:55 Lysosomal lipase acid deficiency: from suspicion to treatment François Feillet, Vandoeuvre les Nancy, FR 12:00 12:20 Fabry Disease 10 years on: progress or progression? Robin Lachmann, London, UK 12:25 12:40 Invited short oral communication: Immune alterations in Progranulin mutation carriers have functional consequences in NCL: data from a human NCL model Ana Luisa Cardoso, Coimbra, PT 12:40 12:55 Invited short oral communication: Cholesterol 24S-hydroxylase as a new therapeutic target in Niemann-Pick type C disease Elsa Rodrigues, Lisboa, PT 12:55-13:55 Lunch
2 14:00 15:45 Session III Neurometabolic disorders Chairpersons: Mireia del Toro, Barcelona, SP and José Pedro Vieira, Lisboa, PT 14:00-14:20 Treatable newborn and infant seizures due to IEM Barbara Plecko, Zurich, CH 14:25 14:45 The biochemistry of vitamin B6 dependent epilepsy Nanda Verhoeven Duif, Utrecht, NL 14: Metabolic epilepsies of late childhood and adolescence Georg Hoffmann, Heidelberg, DE 15:15-15:30 Neuronal ceroid lipofuscinosis (NCL) and epilepsy: clinical cases and therapeutic perspectives Sofia Quintas, Lisboa, PT 15:35 15:50 Invited short oral communication: Vitamin B6 is essential in serine de novo biosynthesis Rúben Ramos, Utrecht, NL 15:50 16:10 Coffee Break 16:10 17:40 Short oral communications (from selected abstracts) Chairpersons: Teresa Cardoso, Porto, PT and Esmeralda Rodrigues, Porto, PT
3 Friday, March 17 th 09:00-10:30 Short oral communications (from selected abstracts) Chairpersons: Paula Leandro, Lisboa,PT and Júlio Rocha, Porto, PT 10:30-11:00 Coffee-break 11:00-13:00 Session IV Looking beyond the nutritional treatment: a new reality Chairpersons: Margarida B. Silva, Lisboa, PT and Esmeralda Martins, Porto, PT 11:00-11:20 Nutritional management in MSUD: the experience from the USA guidelines Rani Singh, Decartur - Georgia, USA 11:25 11:45 The therapeutic potential of Metformin in MSUD Arvind Ramanathan, Novato California, USA 11:50 12:10 LCFA oxidation defects: treatment strategies Ute Spiekerkoetter, Freiburg, DE 12:15-12:35 Triheptanoin acid in LCFA oxidation defects Jerry Vockley, Pittsburgh - Pennsylvania, USA 12:40 13:00 MCAD deficiency whom to treat and how Soeren Gersting, Munch, DE 13:05 14:05 Lunch 14:10 15:40 Session IV (cont) Looking beyond the nutritional treatment: a new reality Chairpersons: Patricia Janeiro, Lisboa, PT and Rita Castro, Lisboa,, PT 14:10-14:30 PKU and sapropterin dihydrochloride: management of very young children Ania Muntau, Hamburg, DE 14:35 14:55 Cobalamin related remethylation disorders and MTHFR deficiency: the role of the guidelines in the harmonisation of diagnosis, treatment and follow-up Manuel Schiff, Paris, FR 15:00 15:20 Riboflavin, MTHFR genotype and blood pressure: a personalized approach to reducing disease risk Helene McNulty, Northern Ireland, UK 15:25 15:40 Invited short oral communication: Homocysteine metabolism disruption may affect the crosstalk of histone methylation dynamics with gene regulation Rúben Esse, Boston, USA
4 15:40 16:00 Coffee break 16:05 17:05 Short oral poster communications (from selected posters) Chairpersons: Ana Cristina Ferreira, Lisboa, PT and Dulce Quelhas, Porto, PT 17:05 17:15 Awards / Closing Remarks 17:15 End of the Meeting 17:30 Assembleia Geral (membros da SPDM) / Annual General Meeting (SPDM members)
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