A wide spectrum of clinical and brain MRI findings in patients with <it>SLC19A3 </it>mutations

• Main Authors: Yamada Yasukazu (Author), Ishihara Naoko (Author), Kumagai Toshiyuki (Author), Nakanishi Keiko (Author), Suzuki Motomasa (Author), Hara Kenju (Author), Miura Kiyokuni (Author), Yamada Kenichiro (Author), Kuwano Ryozo (Author), Tsuji Shoji (Author), Wakamatsu Nobuaki (Author)
• Format: Book
• Published: BMC, 2010-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>SLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in <it>SLC19A3 </it>cause two distinct clinical phenotypes, biotin-respons...