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Article

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

BMC medical genetics - 22 Dec 2010

Yamada Kenichiro, Miura Kiyokuni, Hara Kenju, Suzuki Motomasa, Nakanishi Keiko, Kumagai Toshiyuki, Ishihara Naoko, Yamada Yasukazu, Kuwano Ryozo, Tsuji Shoji, Wakamatsu Nobuaki

Abstract excerpt

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 and/...

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Identifiers

PMID: 21176162
DOI: 10.1186/1471-2350-11-171
PMCID: PMC3022826

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21176162-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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