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Fra mental retardering til målrettet behandling ved fragilt X-syndrom

Forfatter(e)
Aia Elise Jønch1, 2, Susanne Timshel3, Jytte Merete Carlsen Lunding1, Karen Grønskov4, 5, 6 & Karen Brøndum-Nielsen7 1) Center for fragilt X, Klinikken Kennedy Centret, Juliane Marie Centret, Rigshospitalet 2) Klinisk Genetisk Afdeling, Odense UniversitetsHospital 3) Genetisk Rådgivningsklinik, Klinikken Kennedy Centret, Juliane Marie Centret, Rigshospitalet 4) Medicinsk Genetisk Laboratorium, Klinikken Kennedy Centret, Juliane Marie Centret, Rigshospitalet 5) Center for Anvendt Human Molekylær-genetik, Klinikken Kennedy Centret, Juliane Marie Centret, Rigshospitalet 6) Afdelingen for Cellulær og Molekylær Medicin, Det Sundhedsvidenskabelige Fakultet, Københavns Universitet 7) Klinikken Kennedy Centret, Juliane Marie Centret, Rigshospitalet Ugeskr Læger 2014;176:V06130350
Reference: 
Ugeskr Læger 2014;176:V06130350
Blad nummer: 
Sidetal: 
2466-2470
From intellectual disability to new treatment modalities of fragile X syndrome:
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.
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