EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.7.6.2 | thiamine diphosphokinase deficiency |
22152682 |
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. |
unassigned |
0 |
| 2.7.6.2 | thiamine diphosphokinase deficiency |
30789823 |
Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing. |
unassigned |
0 |
| 2.7.6.2 | thiamine diphosphokinase deficiency |
25458521 |
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. |
unassigned |
0 |
| 2.7.6.2 | thiamine diphosphokinase deficiency |
33031988 |
Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype. |
unassigned |
0 |
| 2.7.6.2 | thiamine diphosphokinase deficiency |
33231275 |
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder. |
unassigned |
0 |
| 2.7.6.2 | thiamine diphosphokinase deficiency |
27896076 |
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. |
unassigned |
0 |
| 2.7.6.2 | thiamine diphosphokinase deficiency |
33565067 |
[Clinical characteristics and genetic analysis of a Chinese pedigree affected with thiamine pyrophosphokinase deficiency]. |
unassigned |
0 |
