Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin
Contributeurs/tricesGautschi, Matthias; Merlini, Laura; Calza, Anne-Marie; Hayflick, Susan; Nuoffer, Jean-Marc; Fluss, Joel Victor
Publié dansEuropean journal of paediatric neurology, vol. 18, no. 4, p. 516-519
Date de publication2014
Résumé
Mots-clés
- Child
- Dystonia/complications/pathology
- Female
- Fucosidosis/complications/diagnosis
- Globus Pallidus/pathology
- Humans
- Magnetic Resonance Imaging
- Skin Diseases/complications
Groupe de recherche
Citation (format ISO)
GAUTSCHI, Matthias et al. Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. In: European journal of paediatric neurology, 2014, vol. 18, n° 4, p. 516–519. doi: 10.1016/j.ejpn.2014.02.005
Fichiers principaux (1)
Article (Published version)
Identifiants
- PID : unige:55174
- DOI : 10.1016/j.ejpn.2014.02.005
- PMID : 24636010
ISSN du journal1090-3798