These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Ataxia-telangiectasia surveyed in Sweden].
    Author: Lähdesmäki A, Arinbjarnarson K, Arvidsson J, el Segaier M, Fasth A, Fernell E, Gustafsson D, Oxelius VA, Risberg K, Yuen J, Zetterlund P, von Zweigbergk M, Ahsgren I, Hammarström L.
    Journal: Lakartidningen; 2000 Oct 04; 97(40):4461-5, 4467. PubMed ID: 11068401.
    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.
    [Abstract] [Full Text] [Related] [New Search]