Article
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease.
Folia neuropathologica - 1 Jan 2017
Pronicki Maciej, Piekutowska-Abramczuk Dorota, Jurkiewicz Elżbieta, Rokicki Dariusz, Ciara Elżbieta, Trubicka Joanna, Iwanicka-Pronicka Katarzyna, Pajdowska Magdalena, Migdał Marek, Grajkowska Wieslawa A
Abstract excerpt
Biotin-thiamine-responsive basal ganglia disease is a severe form of a rare neurogenetic disorder caused by pathogenic molecular variants in the thiamine transporter gene. Nowadays, a potentially effective treatment is known, therefore the early diagnosis is mandatory. The aim of the paper was to assess the contribution of neuropathological and magnetic resonance imaging (MRI) studies to a proper diagnosis. We...
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