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Fra mental retardering til målrettet behandling ved fragilt X-syndrom

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@article{98b32f335fbb4178b78b270722bd0544,
title = "Fra mental retardering til m{\aa}lrettet behandling ved fragilt X-syndrom",
abstract = "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.",
author = "J{\o}nch, {Aia Elise} and Susanne Timshel and Jytte Lunding and Karen Gr{\o}nskov and Karen Br{\o}ndum-Nielsen",
year = "2014",
month = "2",
day = "24",
language = "Dansk",
volume = "176",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "9A",

}

RIS

TY - JOUR

T1 - Fra mental retardering til målrettet behandling ved fragilt X-syndrom

AU - Jønch, Aia Elise

AU - Timshel, Susanne

AU - Lunding, Jytte

AU - Grønskov, Karen

AU - Brøndum-Nielsen, Karen

PY - 2014/2/24

Y1 - 2014/2/24

N2 - 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.

AB - 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.

M3 - Tidsskriftartikel

VL - 176

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 9A

ER -

ID: 45086691