thiamine pyrophosphate has been researched along with Ataxia with Lactic Acidosis in 10 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 4 (40.00) | 18.2507 |
| 2000's | 3 (30.00) | 29.6817 |
| 2010's | 2 (20.00) | 24.3611 |
| 2020's | 1 (10.00) | 2.80 |
| Authors | Studies |
|---|---|
| de Almeida, IT; Florindo, C; Leandro, P; Lousa, D; Pavlu-Pereira, H; Rivera, I; Silva, MJ; Tomé, CS; Vicente, JB | 1 |
| Arjunan, P; Furey, W; Jordan, F; Korotchkina, LG; Nemeria, NS; Park, YH; Patel, MS; Whitley, MJ | 1 |
| Feichtinger, RG; Fleuren, L; Freisinger, P; Haack, TB; Koch, J; Mayr, JA; Prokisch, H; Ribes, A; Rivera, I; Rodenburg, RJ; Smeitink, JA; Sperl, W; Zimmermann, FA | 1 |
| Ahn, MS; Hwang, JS; Kim, SH; Kim, SJ; Lee, EH; Ryu, KH | 1 |
| Debray, FG; Gagne, R; Laframboise, R; Lambert, M; MacKay, N; Maranda, B; Mitchell, GA; Robinson, BH | 1 |
| Du, Y; Hemalatha, SG; Kaung, M; Kerr, DS; Kolli, M; Lusk, MM; Patel, MS; Schelper, RL; Wexler, ID | 1 |
| Ito, M; Kuroda, Y; Naito, E; Takeda, E; Yokota, I; Yoshijima, S | 1 |
| Ito, M; Kuroda, Y; Matsuda, J; Naito, E; Saijo, T; Yokota, I | 1 |
| Korotchkina, LG; Patel, MS; Tripatara, A | 1 |
| Jacobia, SJ; Korotchkina, LG; Patel, MS | 1 |
1 review(s) available for thiamine pyrophosphate and Ataxia with Lactic Acidosis
| Article | Year |
|---|---|
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Topics: Energy Metabolism; Female; Humans; Iron-Sulfur Proteins; Male; Oxidation-Reduction; Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; Thiamine Pyrophosphate; Thioctic Acid | 2015 |
9 other study(ies) available for thiamine pyrophosphate and Ataxia with Lactic Acidosis
| Article | Year |
|---|---|
Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency.
Topics: Amino Acid Substitution; Enzyme Stability; Humans; Molecular Dynamics Simulation; Mutation, Missense; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase Complex Deficiency Disease; Thiamine Pyrophosphate | 2021 |
Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the αV138M variant of human pyruvate dehydrogenase.
Topics: Catalysis; Crystallography, X-Ray; Dihydrolipoyllysine-Residue Acetyltransferase; Humans; Kinetics; Models, Molecular; Mutation; Protein Conformation; Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; Thiamine Pyrophosphate | 2018 |
A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.
Topics: Cells, Cultured; Female; Humans; Infant, Newborn; Point Mutation; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase Complex Deficiency Disease; Thiamine; Thiamine Pyrophosphate | 2006 |
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Topics: Ataxia; Basal Ganglia Diseases; Binding Sites; Brain Diseases, Metabolic; Child; Child, Preschool; Diagnosis, Differential; Dystonia; Fatal Outcome; Humans; Infant; Lactic Acid; Male; Movement Disorders; Muscle Weakness; Mutation; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; Thiamine Pyrophosphate | 2008 |
Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
Topics: Base Sequence; Binding Sites; Biopsy; Cells, Cultured; DNA, Complementary; Fibroblasts; Humans; Immunoblotting; Infant; Male; Molecular Sequence Data; Muscle, Skeletal; Myocardium; Point Mutation; Polymerase Chain Reaction; Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; RNA, Messenger; Sequence Analysis, DNA; Skin; Thiamine Pyrophosphate | 1995 |
Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.
Topics: Acidosis, Lactic; Base Sequence; Decarboxylation; Humans; Immunoblotting; Infant, Newborn; Lactates; Lactic Acid; Lymphocytes; Male; Molecular Sequence Data; Mutation; Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; Thiamine; Thiamine Pyrophosphate | 1994 |
Thiamine-responsive lactic acidaemia: role of pyruvate dehydrogenase complex.
Topics: Acidosis, Lactic; Child, Preschool; Female; Fibroblasts; Humans; Infant; Lymphocytes; Male; Muscle, Skeletal; Pyruvate Dehydrogenase Complex Deficiency Disease; Thiamine; Thiamine Pyrophosphate | 1998 |
Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
Topics: 2,6-Dichloroindophenol; Acetylation; Acetyltransferases; Amino Acid Substitution; Apoenzymes; Arginine; Binding Sites; Circular Dichroism; Dihydrolipoyllysine-Residue Acetyltransferase; Enzyme Stability; Humans; Kinetics; Methionine; Point Mutation; Proline; Protein Structure, Secondary; Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvic Acid; Recombinant Proteins; Thermodynamics; Thiamine Pyrophosphate | 1999 |
Characterization of a missense mutation at histidine-44 in a pyruvate dehydrogenase-deficient patient.
Topics: Acetyltransferases; Binding Sites; Dihydrolipoamide Dehydrogenase; Dihydrolipoyllysine-Residue Acetyltransferase; Enzyme Stability; Humans; Kinetics; Mutagenesis, Site-Directed; Mutation, Missense; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; Temperature; Thiamine Pyrophosphate | 2002 |