Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome
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Title
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome
Authors
Keywords
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Journal
BRAIN
Volume 139, Issue 1, Pages 31-38
Publisher
Oxford University Press (OUP)
Online
2016-01-08
DOI
10.1093/brain/awv342
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Note: Only part of the references are listed.- Involvement of Organic Cation Transporters in the Clearance and Milk Secretion of Thiamine in Mice
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- (2011) Belén Pérez-Dueñas et al. ARCHIVES OF NEUROLOGY
- Thiamine Status in Humans and Content of Phosphorylated Thiamine Derivatives in Biopsies and Cultured Cells
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- Mutations in a Thiamine-Transporter Gene and Wernicke's-like Encephalopathy
- (2009) Satoshi Kono et al. NEW ENGLAND JOURNAL OF MEDICINE
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