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
Thiamine metabolism dysfunction syndrome 5 (THMD5) mimicking acute disseminated encephalomyelitis.
Thompson ZE et al.
American Journal of Medical Genetics. Part A, 2023
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
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
Bugiardini E et al.
Journal of Clinical Medicine, 2019
Reduced thiamine binding is a novel mechanism for TPK deficiency disorder.
Huang W et al.
Molecular Genetics and Genomics : Mgg, 2019
Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing.
Zhu L et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation.
Mahajan A et al.
Journal of the Neurological Sciences, 2017
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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