thiamine pyrophosphate and Leigh Disease

thiamine pyrophosphate has been researched along with Leigh Disease in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Baide-Mairena, H; Marcé-Grau, A; Martí-Sánchez, L; Ortigoza-Escobar, JD; Pérez-Dueñas, B1
Arias, A; Artuch, R; Casado, M; Darín, N; Garcia-Cazorla, A; Garcia-Villoria, J; Gort, L; Hernández, M; Mayr, JA; Molero-Luis, M; Ortigoza-Escobar, JD; Oyarzabal, A; Pérez-Dueñas, B; Ribes, A; Rodríguez-Pombo, P; Serrano, M; Tondo, M1
Bettendorff, L; Kohn, G; Lakaye, B; Wins, P1

Reviews

2 review(s) available for thiamine pyrophosphate and Leigh Disease

ArticleYear
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:4

    Topics: Anemia, Megaloblastic; Biological Transport; Biomarkers; Diabetes Mellitus; Hearing Loss, Sensorineural; Humans; Leigh Disease; Membrane Transport Proteins; Mutation; Phenotype; Thiamine; Thiamine Deficiency; Thiamine Pyrophosphate

2019
Thiamine triphosphate: a ubiquitous molecule in search of a physiological role.
    Metabolic brain disease, 2014, Volume: 29, Issue:4

    Topics: Adenosine Triphosphate; Adenylate Kinase; Amino Acids; Animals; Brain; Cytosol; Forecasting; Humans; Leigh Disease; Mitochondria; Models, Biological; Models, Neurological; Organ Specificity; Phosphorylation; Protein Processing, Post-Translational; Proton-Translocating ATPases; Signal Transduction; Species Specificity; Thiamin-Triphosphatase; Thiamine Triphosphate

2014

Trials

1 trial(s) available for thiamine pyrophosphate and Leigh Disease

ArticleYear
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
    Brain : a journal of neurology, 2016, Volume: 139, Issue:Pt 1

    Topics: Adolescent; Biomarkers; Case-Control Studies; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Leigh Disease; Male; Membrane Transport Proteins; Mutation; Pyruvate Dehydrogenase Complex; Thiamine; Thiamine Pyrophosphate

2016