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Autor:
Jens Frahm, Folker Hanefeld, Jürgen Sperner, Ulrich Stephani, Peter Dechent, Mechthild Haupt, K. Brockmann, M. Meins
Publikováno v:
Journal of Neurology. 250:300-306
Alexander disease (AD) is a rare genetic disorder of the central nervous system due to a dysfunction of astrocytes. The most common infantile form presents as a progressive leukodystrophy with macrocephalus. Recently, heterozygous de novo mutations i