PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 27191787-2 2016 There are four major genetic defects (SLC19A2, SLC19A3, SLC25A19 and TPK1) involved in the metabolism and transport of thiamine through cellular and mitochondrial membranes. Thiamine 119-127 solute carrier family 19 member 3 Homo sapiens 47-54 27191787-6 2016 Expert commentary: Doses of thiamine vary according to the genetic defect: for SLC19A2, the usual dose is 25-200 mg/day (1-4 mg/kg per day), for SLC19A3, 10-40 mg/kg per day, and for TPK1, 30 mg/kg per day. Thiamine 28-36 solute carrier family 19 member 3 Homo sapiens 145-152 27191787-7 2016 Thiamine supplementation in SLC19A3-mutated patients restores CSF and intracellular thiamine levels, resulting in successful clinical benefits. Thiamine 0-8 solute carrier family 19 member 3 Homo sapiens 28-35 27191787-7 2016 Thiamine supplementation in SLC19A3-mutated patients restores CSF and intracellular thiamine levels, resulting in successful clinical benefits. Thiamine 84-92 solute carrier family 19 member 3 Homo sapiens 28-35 27191787-8 2016 In conclusion, evidence collected so far suggests that the administration of thiamine improves outcome in SLC19A-2, SLC19A3- and TPK1-mutated patients, so most efforts should be aimed at early diagnosis of these disorders. Thiamine 77-85 solute carrier family 19 member 3 Homo sapiens 116-123