Title : Thiamine transporter-2 deficiency: outcome and treatment monitoring.

Pub. Date : 2014 Jun 23

PMID : 24957181






2 Functional Relationships(s)
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1 METHODS: We report the clinical follow-up after thiamine and biotin supplementation in four children with ThTR2 deficiency presenting with Leigh and biotin-thiamine-responsive basal ganglia disease phenotypes. Thiamine solute carrier family 19 member 3 Homo sapiens
2 METHODS: We report the clinical follow-up after thiamine and biotin supplementation in four children with ThTR2 deficiency presenting with Leigh and biotin-thiamine-responsive basal ganglia disease phenotypes. Thiamine solute carrier family 19 member 3 Homo sapiens