Associated Papers
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A et al.
Journal of Inherited Metabolic Disease, 2019
Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.
Subramanian VS et al.
Clinical Science (london, England : 1979), 2007
Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.
Ricketts CJ et al.
Acta Paediatrica (oslo, Norway : 1992), 2006
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