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 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
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
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
Treatment of genetic defects of thiamine transport and metabolism.
Ortigoza-Escobar JD et al.
Expert Review of Neurotherapeutics, 2016
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Fraser JL et al.
Molecular Genetics and Metabolism Reports, 2014
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