Rare diseases are rare, but
rare disease patients are numerous

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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
• • FRANCE
  • NORD-PAS-DE-CALAIS
  • LILLE
  • European information project on rare forms of dementia
  • Centre de Recherches Jean-Pierre Aubert (CRJPA)
  • Maladies neurodégénératives et mort neuronale
  • More details
• • GERMANY
  • Baden-Württemberg
  • ULM
  • Excitation-contraction coupling in health and disease: Ion channel diseases - diagnosis, pathogenesis and therapy
  • Universität Ulm
  • Institut für Angewandte Physiologie
  • More details
• • GERMANY
  • Bayern
  • MÜNCHEN
  • TIRCON -Treat Iron-Related Childhood-Onset Neurodegeneration (coordination)
  • LMU Klinikum der Universität München - Campus Großhadern
  • Arbeitsgruppe Neurogenetik
  • 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
  • KÖLN
  • Stimulation of the Globus Pallidus in NBIA: Treatment results and development of a therapeutic algorithm
  • Universitätsklinikum Köln
  • Klinik und Poliklinik für Neurologie
  • 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
  • LOMBARDIA
  • BRESCIA
  • Understanding the molecular basis of mucolipidosis type IV
  • Università degli Studi di Brescia
  • Dipartimento di Scienze Biomediche e Biotecnologie
  • More details
• • ITALY
  • LOMBARDIA
  • BRESCIA
  • Functional and epidemiological study of neuroferritinopathies: implications for the role of iron in neurodegenerative disorders
  • Università degli Studi di Brescia
  • Dipartimento Materno Infantile e Tecnologie Biomediche
  • More details
• • ITALY
  • LOMBARDIA
  • BRESCIA
  • Animal models of neuroferritinopathies for the study of the role of iron in neurodegeneration
  • Università degli Studi di Brescia
  • Dipartimento Materno Infantile e Tecnologie Biomediche
  • More details
• • ITALY
  • LOMBARDIA
  • MILANO
  • Functional and epidemiological study of neuroferritinopathies: implications for the role of iron in nurodegenerative disorders
  • IRCCS Ospedale San Raffaele - DIBIT
  • Laboratorio di Proteomica del Metabolismo del Ferro
  • 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
• • UNITED KINGDOM
  • Greater London
  • LONDON
  • Development of diagnostic methods for lysosomal storage diseases
  • UCL Institute of Child Health
  • Biochemistry Research Group
  • More details
• • UNITED KINGDOM
  • West Midlands
  • BIRMINGHAM
  • Genetic causes of neurodegeneration with high brain iron
  • Birmingham Women's NHS Foundation Trust
  • Regional Genetics Unit
  • More details
• • UNITED STATES
  • South Dakota
  • SIOUX FALLS
  • The etiology of inherited neurological diseases
  • Sanford Research
  • Kruer Lab
  • More details