Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.
Dallan A et al.
Orphanet Journal of Rare Diseases, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review.
Zhao D et al.
Frontiers in Pediatrics, 2023
Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease.
Li X et al.
Bmc Neurology, 2022
Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.
Eckenweiler M et al.
Neuropediatrics, 2021
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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
Bugiardini E et al.
Journal of Clinical Medicine, 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
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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