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
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.
Mascarenhas S et al.
Clinical Dysmorphology, 2024
Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review.
Zhao D et al.
Frontiers in Pediatrics, 2023
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder.
Rüsch CT et al.
Neuropediatrics, 2021
Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia.
Zhu B et al.
Journal of Molecular Neuroscience : Mn, 2020
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.
Nyhan WL et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
Bugiardini E et al.
Journal of Clinical Medicine, 2019
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