Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

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 as...

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Bibliographic Details
Main Authors: Maciej Pronicki, Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Dariusz Rokicki, Elżbieta Ciara, Joanna Trubicka, Katarzyna Iwanicka-Pronicka, Magdalena Pajdowska, Marek Migdał, Wieslawa A. Grajkowska
Format: Article
Language:English
Published: Termedia Publishing House 2017-06-01
Series:Folia Neuropathologica
Subjects:
<i>basal ganglia disease
SLC19A3 mutations
MRI
autopsy
neuropathology
thiamine transporter</i>
Online Access:https://www.termedia.pl/Neuropathological-characteristics-of-the-brain-in-two-patients-with-SLC19A3-mutations-related-to-the-biotin-thiamine-responsive-basal-ganglia-disease,20,30153,1,1.html

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https://www.termedia.pl/Neuropathological-characteristics-of-the-brain-in-two-patients-with-SLC19A3-mutations-related-to-the-biotin-thiamine-responsive-basal-ganglia-disease,20,30153,1,1.html

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