Zobrazeno 1 - 3
of 3
pro vyhledávání: '"J. A. P. Hiel"'
Publikováno v:
Acta neurologica Belgica. 109(3)
The Harlequin syndrome is a rare autonomic disorder, characterized by unilateral diminished sweating and flushing of the face in response to heat or exercise. We present two new cases and evaluate the data of 83 patients described in the literature.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f5b99cfdb8cb27d6a396785b3cc22b68
https://pubmed.ncbi.nlm.nih.gov/19902816
https://pubmed.ncbi.nlm.nih.gov/19902816
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 147(9)
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, telangiectasia, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to cell kill by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::25778055314122620466e6a4ad8ecf39
https://pubmed.ncbi.nlm.nih.gov/12661456
https://pubmed.ncbi.nlm.nih.gov/12661456
Autor:
J. Meulstee, R. van Koningsveld, L. H. van den Berg, W. H. J. P. Linssen, P.A. van Doorn, M. Scheltens-de Boer, M. J. J. Prick, Christian Sindic, J. A. P. Hiel, I.S.J. Merkies, I. N. van Schaik, J. A. van Leusden, C. G. Faber, H. Franssen, Marcel P J Garssen, F. Visscher, A. M. Boon, Peter Van den Bergh
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 78:1416-1416
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97ae17a05127774c0443e545ab203290
https://doi.org/10.1136/jnnp.2006.102731corr1
https://doi.org/10.1136/jnnp.2006.102731corr1