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

Pub. Date : 2016 Jan

PMID : 26657515






1 Functional Relationships(s)
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1 We also observed a severe deficiency of free-thiamine and low levels of thiamine diphosphate in fibroblasts from SLC19A3 patients. Thiamine Pyrophosphate solute carrier family 19 member 3 Homo sapiens