Associated Papers
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.
Dallan A et al.
Orphanet Journal of Rare Diseases, 2025
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
Treatment of genetic defects of thiamine transport and metabolism.
Ortigoza-Escobar JD et al.
Expert Review of Neurotherapeutics, 2016
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.
Mayr JA et al.
American Journal of Human Genetics, 2011
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