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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Detalles Bibliográficos
Autores principales: Yamada, Kenichiro, Miura, Kiyokuni, Hara, Kenju, Suzuki, Motomasa, Nakanishi, Keiko, Kumagai, Toshiyuki, Ishihara, Naoko, Yamada, Yasukazu, Kuwano, Ryozo, Tsuji, Shoji, Wakamatsu, Nobuaki
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022826/
https://www.ncbi.nlm.nih.gov/pubmed/21176162
http://dx.doi.org/10.1186/1471-2350-11-171

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022826/
https://www.ncbi.nlm.nih.gov/pubmed/21176162
http://dx.doi.org/10.1186/1471-2350-11-171

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