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Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Brain : a journal of neurology - 1 Jan 2016

Ortigoza-Escobar Juan Darío, Molero-Luis Marta, Arias Angela, Oyarzabal Alfonso, Darín Niklas, Serrano Mercedes, Garcia-Cazorla Angels, Tondo Mireia, Hernández María, Garcia-Villoria Judit, Casado Mercedes, Gort Laura, Mayr Johannes A, Rodríguez-Pombo Pilar, Ribes Antonia, Artuch Rafael, Pérez-Dueñas Belén

Abstract excerpt

Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 whole blood and 38...

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PMID: 26657515
DOI: 10.1093/brain/awv342

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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