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Ataxia-telangiectasia kartlagd i Sverige

Lahdesmaki, A; Arinbjarnarson, K; Arvidsson, J; El-Segaier, Milad LU ; Fasth, A; Fernell, E; Gustafsson, D; Oxelius, Vivi-Anne LU ; Risberg, K and Yuen, J, et al. (2000) In Läkartidningen 97(40). p.4461-4467
Abstract
Ataxia-telangiectasia (AT) is a rare autosomal recessive disease with a complex phenotype involving cerebellar degeneration, immunodeficiency, cancer risk and radiosensitivity. Our aim has been to identify Swedish AT patients in order to study the possible "Swedish phenotype" of the disease. In the 19 patients identified in Sweden we found a phenotype fairly similar to what has been described internationally, with the exception of some differences including lower cancer incidence in patients and their relatives and somewhat more pronounced immunodeficiency and concomitant susceptibility to infections.
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type
Contribution to journal
publication status
published
subject
keywords
Fenotyp, Genetiska sjukdomsanlag, Ataxia telangiektasia
in
Läkartidningen
volume
97
issue
40
pages
4461 - 4467
external identifiers
  • pmid:11068401
  • scopus:0034605416
ISSN
0023-7205
language
Swedish
LU publication?
yes
id
7083f275-2718-456a-9266-11540932c56f (old id 1116864)
alternative location
http://ltarkiv.lakartidningen.se/artNo21775
date added to LUP
2008-07-02 11:23:29
date last changed
2017-01-01 07:20:55
@article{7083f275-2718-456a-9266-11540932c56f,
  abstract     = {Ataxia-telangiectasia (AT) is a rare autosomal recessive disease with a complex phenotype involving cerebellar degeneration, immunodeficiency, cancer risk and radiosensitivity. Our aim has been to identify Swedish AT patients in order to study the possible "Swedish phenotype" of the disease. In the 19 patients identified in Sweden we found a phenotype fairly similar to what has been described internationally, with the exception of some differences including lower cancer incidence in patients and their relatives and somewhat more pronounced immunodeficiency and concomitant susceptibility to infections.},
  author       = {Lahdesmaki, A and Arinbjarnarson, K and Arvidsson, J and El-Segaier, Milad and Fasth, A and Fernell, E and Gustafsson, D and Oxelius, Vivi-Anne and Risberg, K and Yuen, J and Zetterlund, P and von Zweigbergk, M and Ahsgren, I and Hammarstrom, L},
  issn         = {0023-7205},
  keyword      = {Fenotyp,Genetiska sjukdomsanlag,Ataxia telangiektasia},
  language     = {swe},
  number       = {40},
  pages        = {4461--4467},
  series       = {Läkartidningen},
  title        = {Ataxia-telangiectasia kartlagd i Sverige},
  volume       = {97},
  year         = {2000},
}