A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

BACKGROUND: SLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-responsive basal ganglia disease and Wernicke's-like encephalopathy. Biotin an...

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Main Authors: Yamada, Kenichiro, Miura, Kiyokuni, Hara, Kenju, Suzuki, Motomasa, Nakanishi, Keiko, Kumagai, Toshiyuki, Ishihara, Naoko, Yamada, Yasukazu, Kuwano, Ryozo, Tsuji, Shoji, Wakamatsu, Nobuaki
Format: Artigo
Language:Inglês
Published: BioMed Central 2010
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3022826/
https://ncbi.nlm.nih.gov/pubmed/21176162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-171
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