Profiles
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Nadia Belmatoug
Centre de Référence Maladies Lysosomales AP-HP, Paris Nord Hôpital Beaujon, Université Paris Cité
Nadia BELMATOUG - Centre de Référence Maladies Lysosomales AP-HP, Paris Nord Hôpital Beaujon, Université Paris Cité
Nathalie Guffon
Reference Centre of inherited metabolic disease in Femme Mère Enfant Hospital, Hospices Civils of Lyon, France
Clinical, treatment and monitoring of children and adults with inherited metabolic defects. Multidisciplinary assessment, ERT
Niklas Darin
Sahlgrenska University Hospital and Sahlgrenska Academy at the University of Gothenburg
PhD degree at the department of Pediatrics, The Queen Silvia Children’s Hospital, Göteborg University, 1 dec, 2000, Project title; "Neuromuscular disorders in childhood, epidemiology and characterization of a new myopathy”
Olga Azevedo
Hospital Senhora da Oliveira, Guimarães, Portugal
Olga Azevedo, MD, Cardiologist, Director of the Reference Centre on Lysosomal Storage Disorders (LSD) in Hospital Senhora da Oliveira – Guimarães, Portugal, Member of the National Committee of Treatment of LSD, Lecturer of Cardiology at the Medicine School of Minho University, Portugal.
Pascal De Lonlay
Hôpital Necker-Enfants Malades, APHP, University Paris-Descartes, France
Head of Metabolic Unit and Reference Center of Metabolic Disease, Hôpital Necker-Enfants Malades, APHP, University Paris-Descartes, 75743 Paris cedex 15, Paris, France
Patrick B. Deegan MD
Cambridge University Hospitals NHS Foundation Trust (CUH)
Service Director & Consultant Physician Lysosomal Disorders Unit
Paula-Sánchez-Pintos
Legal representative of the Network substitute: Paula Sánchez Pintos, MD, PhD
I have participated in 5 projects, 3 of them Phase I-II projects, in Inborn Errors of Metabolism. I am author / co-author of 9 publications indexed in the JCR (one actually in press), and I also am one of the authors of the Protocol of homocystinuria of the Spanish Association for the study of Congenital Errors of Metabolism (AECOM), 2017.
Peter van Hasselt
UMCU, Utrecht, the Netherlands
Gepke Visser, paediatrician, is head of the department of metabolic diseases of the Wilhelmina Children’s Hospital, UMCU in The Netherlands (CIMD-UMCU). The UMCU hosts the designated Dutch hematopoietic stem cell transplantation centre for lysosomal storage disorders and other metabolic disorders. Furthermore, she is head of the national expertise center on fatty acid oxidation disorders.
Peter Witters
Universitair Ziekenhuis Leuven | UZ Leuven - Department of Paediatrics, Belgium
Professor, Faculty of Biomedical Sciences, in KU Leuven. Universitair Ziekenhuis Leuven | UZ Leuven - Department of Paediatrics
Pietro Strisciuglio
Professor of Pediatrics, Dept. Of Pediatrics , School of Medicine , University of Naples , Italy.
Professor of Pediatrics University of Naples , Italy
