Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Fra mental retardering til målrettet behandling ved fragilt X-syndrom

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Integration af specialiseret palliation og onkologi

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Formodet SARS-CoV-2-dødsfald hos en tidligere rask 50-årig mand

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Akut luftvejsobstruktion grundet uerkendt akalasi efter ukompliceret vaginal fødsel

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Dansk Kvalitetsdatabase for Nyfødte (DKN) -resumé af årsrapport 2018. Indikator 9: antibiotikabehandling

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Lokalanæstesitorakoskopi ved udredning af recidiverende pleuraeffusion

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Distribution of risk alleles in patients with age-related macular degeneration

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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.

Translated title of the contributionFrom intellectual disability to new treatment modalities of fragile X syndrome.
Original languageDanish
JournalUgeskrift for læger [online]
Volume176
Issue number9A
ISSN1603-6824
Publication statusPublished - 24 Feb 2014

ID: 45086691