There is no disease so rare
that it does not deserve attention

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• • CANADA
  • Colombie-Britannique
  • VANCOUVER
  • FORGE - Finding of Rare Disease Genes in Canada
  • University of British Columbia
  • Faculty of Medicine
  • More details
• • CANADA
  • Ontario
  • OTTAWA
  • 
  • Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
  • Children's Hospital of Eastern Ontario
  • Newborn Screening Ontario
  • More details
• • CANADA
  • Ontario
  • OTTAWA, ONTARIO
  • 
  • Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
  • University of Ottawa
  • Department of Epidemiology and Community Medicine
  • More details
• • CANADA
  • Ontario
  • OTTAWA, ONTARIO
  • FORGE - Finding of Rare Disease Genes in Canada
  • University of Ottawa
  • Faculty of Medicine -
  • More details
• • CANADA
  • Québec
  • MONTREAL
  • FORGE - Finding of Rare Disease Genes in Canada
  • Centre hospitalier universitaire Sainte-Justine
  • Pédiatrie
  • More details
• • FRANCE
  • ILE-DE-FRANCE
  • LE KREMLIN BICETRE
  • Pain impact in children affected by lysosomal diseases
  • CHU de Bicêtre
  • Unité douleur et Soins Palliatifs
  • More details
• • FRANCE
  • ILE-DE-FRANCE
  • PARIS
  • Evaluation of diagnosis and treatment protocols and long-term follow-up of errors of metabolism
  • CHU Paris - Hôpital Necker - Enfants Malades
  • Unité fonctionnelle métabolisme
  • More details
• • FRANCE
  • ILE-DE-FRANCE
  • PARIS
  • Evaluation of diagnosis and treatment protocols and long-term follow-up of errors of metabolism
  • CHU Paris - Hôpital Robert Debré
  • Service de neurologie pédiatrique et des maladies métaboliques
  • More details
• • FRANCE
  • MIDI-PYRENEES
  • TOULOUSE
  • Sialidase Neu4: new therapy for lysosomal diseases
  • CHU de Toulouse - Hôpital Purpan
  • Laboratoire de biochimie
  • More details
• • GERMANY
  • Bayern
  • MÜNCHEN
  • BNE: BrainNet Europe II: European brain tissue bank - Network for clinical neuroscience and basic research (coordination)
  • Ludwig-Maximilians-Universität München
  • Zentrum für Neuropathologie und Prionforschung
  • More details
• • GERMANY
  • Nordrhein-Westfalen
  • ESSEN
  • SKELNET : Chondrocyte specific genes as part of the signaling regulation of chondrocyte differentiation
  • Universität Duisburg-Essen
  • Abteilung Entwicklungsbiologie
  • More details
• • HUNGARY
  • Észak-Magyarország
  • BUDAPEST
  • Molecular prognostic factors in pediatric diseases
  • Semmelweis University
  • SOTE Pediatric clinic II
  • More details
• • IRELAND
  • County Dublin
  • DUBLIN
  • A prospective study on the numbers of Irish Travellers attending the metabolic clinic in Dublin
  • Our Lady's Children's Hospital
  • National Centre for Medical Genetics
  • More details
• • ITALY
  • CAMPANIA
  • NAPOLI
  • Modulation of Cellular Clearance in Lysosomal Storage Disorders
  • TIGEM - Telethon Institute of Genetics and Medicine
  • Laboratorio di Ricerca
  • More details
• • ITALY
  • CAMPANIA
  • NAPOLI
  • Small Molecule-Based Therapies with for Lysosomal Storage Diseases
  • TIGEM - Telethon Institute of Genetics and Medicine
  • Laboratorio di Ricerca
  • More details
• • ITALY
  • CAMPANIA
  • NAPOLI
  • Modifying Lysosomal Enzymes to Improve Secretion and Brain Delivery [SuRE]
  • TIGEM - Telethon Institute of Genetics and Medicine
  • Laboratorio di Ricerca
  • More details
• • ITALY
  • LOMBARDIA
  • MILANO
  • CNS-directed gene/cell therapy of LSDs
  • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
  • Istituto San Raffaele Telethon per la Terapia Genica
  • More details
• • ITALY
  • LOMBARDIA
  • MILANO
  • Gene therapy for the treatment of Type I Mucopolysaccharidosis
  • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
  • Unità di Ricerca Clinica Pediatrica
  • More details
• • ITALY
  • LOMBARDIA
  • MONZA
  • Evaluation of stem cells-mediated gene therapy for Hurler's Syndrome
  • Azienda Ospedaliera San Gerardo
  • Centro Ricerca "M.Tettamanti"
  • More details
• • PORTUGAL
  • NORTE
  • PORTO
  • Prognosis and prevention in a few inherited diseases existing in the Portuguese population
  • CGMJM - Centro de Genética Médica Jacinto Magalhães
  • Unidade de Investigação & Desenvolvimento; Departamento de Genética
  • More details
• • PORTUGAL
  • NORTE
  • PORTO
  • Splicing therapeutics for patients affected by lisosomal storage disorders.
  • CGMJM - Centro de Genética Médica Jacinto Magalhães
  • Unidade de Investigação & Desenvolvimento; Departamento de Genética
  • More details
• • PORTUGAL
  • NORTE
  • PORTO
  • The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
  • Instituto de Biologia Molecular e Celular
  • Unidade de Biologia do Lisossoma e do Peroxissoma
  • More details
• • SPAIN
  • Canarias
  • SANTA CRUZ DE TENERIFE
  • BURQOL-RD: Social economic burden and health-related quality of life in patients with rare diseases in Europe
  • Servicio Canario de la Salud
  • Servicio de Evaluación
  • More details
• • SPAIN
  • Cataluña
  • BARCELONA
  • CAV-4-MPS: understanding and treating neurodegeneration caused by mucopolysaccharidoses (coordination)
  • Universitat de Barcelona. Facultat de Farmàcia
  • Departamento de Bioquímica y Biología Molecular
  • More details
• • UNITED KINGDOM
  • Cambridgeshire
  • CAMBRIDGE
  • EUCLYD: substrate reduction therapy for glycospingolipidoses and mucopolysaccharidoses (WP4)
  • Addenbrooke's Hospital
  • Lysosomal Disorders Unit
  • More details
• • UNITED KINGDOM
  • Greater London
  • LONDON
  • Development of diagnostic methods for lysosomal storage diseases
  • UCL Institute of Child Health
  • Biochemistry Research Group
  • More details