Title : Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Pub. Date : 2021

PMID : 34276785






3 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by SLC19A3 mutations, inherited in autosomal recessive pattern. Thiamine solute carrier family 19 member 3 Homo sapiens
2 Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by SLC19A3 mutations, inherited in autosomal recessive pattern. Thiamine solute carrier family 19 member 3 Homo sapiens
3 Thiamine supplementation is indispensable in the treatment of THMD2, whereas combination of biotin and thiamine is not superior to thiamine alone. Thiamine solute carrier family 19 member 3 Homo sapiens