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Fra mental retardering til målrettet behandling ved fragilt X-syndrom

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Aia Elise Jønch
  • Susanne Timshel
  • Jytte Merete Carlsen Lunding
  • Karen Grønskov
  • Karen Brøndum-Nielsen
From intellectual disability to new treatment modalities of fragile X syndrome: Ugeskr Læger 2014;176:V06130350 In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most common inherited form of intellectual disability. Current knowledge about the specific gene, the encoded protein and the pathophysiological mechanisms involved has made it possible to develop pharmacological treatment trials. Fragile X syndrome therefore is on its way as model disorder for targeted treatments in genetic medicine, and this article reviews clinical and therapeutic aspects of the syndrome.
OriginalsprogDansk
ArtikelnummerV06130350
TidsskriftUgeskrift for Laeger
Vol/bind176
Udgave nummer26
Sider (fra-til)2466-2470
Antal sider5
ISSN0041-5782
StatusUdgivet - 22 dec. 2014

ID: 137201201