• Soins Pediatr Pueric · Sep 2013

    [Rare diseases, definitions and epidemiology].

    • Alan Donnart, Viviane Viollet, and Marie Roinet-Tournay.
    • Alliance Maladies Rares, Plateforme Maladies Rares, 96, rue Didot, 75014 Paris, France.
    • Soins Pediatr Pueric. 2013 Sep 1 (274): 14-6.

    AbstractThere are between 6 000 to 8 000 rare diseases, of which 80% are of genetic origin. Most of them appear very early in life. Patients and their families are faced with diagnostic delays, inadequate management as well as a lack of information and resources.A large number of these pathologies are also sometimes called orphan diseases because the populations concerned do not find any treatments.

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