Associated Papers
Profiling of Protein-Coding Missense Mutations in Mendelian Rare Diseases: Clues from Structural Bioinformatics.
Visibelli A et al.
International Journal of Molecular Sciences, 2025
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.
Dallan A et al.
Orphanet Journal of Rare Diseases, 2025
Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review.
Zhao D et al.
Frontiers in Pediatrics, 2023
37622082 (PubMed )
Supplement: Table1.xlsx › Sheet1
Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome.
Li D et al.
European Journal of Medical Genetics, 2020
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