The annual meeting will be focusing on the achievements of the first year of MetabERN activities, the definition of the final report, the starting and planning of the second year of activities...
The annual meeting will be focusing on the achievements of the first year of MetabERN activities, the definition of the final report, the starting and planning of the second year of activities...
The computer networks are up and running and rare disease patients are starting to enter their data. A year after their launch, the European Reference Networks are looking ahead to what it will take to truly perform their mission
This course is organized for young physicians with special interest and a few years of clinical experience in LSDs. It will cover all different aspects of lysosomal storage disorders, including pathophysiology and genetic principles of LSDs, diagnosis of LSDs, treatment and long-term care of patients with LSDs, practical approach to ERT in LSDs, and the clinical spectrum of the different LSDs.
As MetabERN aims to promote prevention, accelerate diagnosis and improve standards of care across Europe for patients living with Inherited Metabolic Disorders, MetabERN considers the correct laboratory diagnosis as a key factor for successful management of patients.
Dr Dulce Quelhas “IEF technique: explanation for families” Bioquímica Genética – Departamento de genética, Instituto Nacional de Saúde Dr Ricardo Jorge, Porto, Portugal. Video “The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a booming story of sugar trees”. 1-2 September 2013, Barcelona. Families and professionals, (clinicians, clinical and basic researchers, […]
Belén Pérez Dueñas Hospital Universitari Sant Joan de Déu Video “The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a booming story of sugar trees”. 1-2 September 2013, Barcelona. Families and professionals, (clinicians, clinical and basic researchers, biologists, chemists and pharmacologists …) had the opportunity to share their knowledge and experiences. […]
Mercedes Serrano, MD PhD Child Neurologist, Clinical Researcher U-703 Centre for Biomedical Network Research on Rare Diseases (CIBERER) Hospital Sant Joan de Déu, Barcelona Video “The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a booming story of sugar trees”. 1-2 September 2013, Barcelona. Families and professionals, (clinicians, clinical and basic […]
Dirk Lefeber, PhD Associate prof. Glycosylation Disorders Radboud University Nijmegen Medical Center The Netherlands Video “The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a booming story of sugar trees”. 1-2 September 2013, Barcelona. Families and professionals, (clinicians, clinical and basic researchers, biologists, chemists and pharmacologists …) had the opportunity to […]
Dr Hudson Freeze “State of the art search for new glycosylation disorders” Video Professor and Director, Genetic Disease Program , Sanford Children’s Health Research Center , Sanford-Burnham Medical Research Institute, La Jolla, USA. “The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a booming story of sugar trees”. 1 and 2 […]
Eva Morava, MD PhD Professor of Pediatrics Tulane University Medical Center New Orleans, Louisiana Video “The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a booming story of sugar trees”. 1-2 September 2013, Barcelona. Families and professionals, (clinicians, clinical and basic researchers, biologists, chemists and pharmacologists …) had the opportunity to […]