Adriaan Holleboom Adriaan Holleboom - Internist registered in Vascular Medicine and Endocrinology, faculty member of the Department of Vascular Medicine and Assistant Professor at Amsterdam UMC

Albert Wiegman Albert Wiegman - Pediatrician and member of the staff at the Amsterdam University Medical Centers in March

Barbara Heniques Barbara Heniques - nvestigator at Biosystems & Integrative Sciences Institute, Faculty of Sciences University of Lisboa (BioISI-FCUL)

Cândida Cancelinha Cândida Cancelinha - Coordenadora da Equipa Intra-hospitalar e Domiciliária de Suporte em Cuidados Paliativos Pediátricos do HP-CHUC

Charles M Lourenço Charles M Lourenço, Professor of Neurogenetics and Biochemical Genetics - Faculdade de Medicina de São José do Rio Preto (FAMERP), São José do Rio Preto - São Paulo, Brazil

David Bick David Bick - Work Institution and Department / MD /PhD Genomics England

Elaine Murphy Elaine Murphy - Royal College of Physicians Young Adult and Adolescent Steering Group

Eugen Mengel Eugen Mengel - SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)

Fanny Mochel Fanny Mochel - Sorbonne University, Paris, France

Filipa Ferreira Filipa Ferreira- Newborn Screening, Metabolic and Genetics Unit of Human Genetics Department of National Institute of Health Dr. Ricardo Jorge, in Porto.

Francesca Tucci Francesca Tucci - Permanent Staff Paediatrician, Pediatric Immunohematology and Bone Marrow Transplant Pediatric Unit, IRCCS San Raffaele Scientific Institute, Milan

Joao Vicente Joao Vicente- Auxiliary Investigator in the Macromolecular Crystallography Unit at NOVA Instituto de Tecnologia Química e Biológica António Xavier (Portugal)

José Vilhena José Vilhena - DOCE

Júlio César Rocha Júlio César Rocha - Professor of Nutrition and Metabolism, NOVA MEDICAL SCHOOL | Faculdade de Ciências Médicas, Universidade Nova de Lisboa, PT; Clinical Nutritionist Specialist, PhD, Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário Lisboa Central, PT; Researcher, Center for Health Technology and Services Research, PT

Luísa Diogo Luísa Diogo - Hospital Pediátrico - CHUC | Faculty of Medicine, University of Coimbra

Mafalda Bourbon Mafalda Bourbon - Senior researcher at the National Institute of Health, Portugal (INSA) and a research and invited professor at Biosystems & Integrative Sciences Institute (BioISI), Faculty of Sciences, University of Lisbon

Margarida Silva Margarida Silva - Assistant Professor at the Department of Pharmaceutical Sciences of the Faculty of Pharmacy, Universidade de Lisboa

Maria Inês Gama Maria Inês Gama - Master student in Human Nutrition and Metabolism at NOVA Medical School │Faculdade de Ciências Médicas da Universidade NOVA de Lisboa

Mário Silva Mário Silva - Full Professor in Computer Science and Engineering (Information Systems) at Instituto Superior Técnico (U. Lisboa) and a researcher of its Information and Decision Support Systems Laboratory (IDSS Lab)

Nadia Belmatoug Nadia Belmatoug - Reference Centre for Lysosomal Diseases, Beaujon University Hospital.; Assistance Publique-Hopitaux de Paris, Paris, France

Pedro Moreno Pedro Moreno - I3S - Instituto para a Investigação e Inovação em Saúde, Universidade do Porto nanoBiomaterials for Targeted Therapies Group

Sara Dias Sara Dias - Centro Hospitalar Universitário Lisboa Norte, Hospital Santa Maria