valine has been researched along with Leigh Disease in 9 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 4 (44.44) | 24.3611 |
| 2020's | 5 (55.56) | 2.80 |
| Authors | Studies |
|---|---|
| Bănescu, C; Bogliș, A; Muntean, C; Tripon, F | 1 |
| Chelliah, P; Dahshi, H; Edgar, VB; Horton, D; Kayani, S; Messahel, S; Ozlu, C | 1 |
| Cances, C; Damaj, L; de Lonlay, P; Doummar, D; Espil, C; Fluss, J; François-Heude, MC; Kern, I; Lebigot, E; Leboucq, N; Lenaers, G; Meyer, P; Munnich, A; Roubertie, A; Roze, E; Spitz, MA; Torre, S; Touati, G; Warde, MTA | 1 |
| Aguilera-Albesa, S; Aldamiz-Echevarría, L; Arranz, A; Artuch, R; Baide-Mairena, H; Carrozzo, R; Correa-Vela, M; Del Toro, M; Delgado, I; Dionisi-Vici, C; Galosi, S; González-Gutiérrez-Solana, L; Leuzzi, V; López-Laso, E; Macaya, A; Marcé-Grau, A; Marti-Sanchez, L; Martinelli, D; Ortigoza-Escobar, JD; Pérez-Dueñas, B; Pérez-Gay, L; Pollini, L; Pons, R; Ribes, A; Rizzo, C; Roelens, F; Sánchez-Montañez, Á; Semeraro, M; Sigatullina, M; Skouma, A; Tolve, M; Tort, F; Urreizti, R; Vazquez, É; Yoldi, ME | 1 |
| Arisaka, A; Ichimoto, K; Kumada, S; Kuwajima, M; Murayama, K; Ogawa, E; Ohtake, A; Osaka, H; Sato-Shirai, I; Watanabe, M | 1 |
| Buck, N; Ferdinandusse, S; Koster, J; Peters, H; Pitt, J; Ruiter, J; Wanders, R; Waterham, H; Yaplito-Lee, J | 1 |
| Gerards, M | 1 |
| Bonfante-Mejia, E; Enns, GM; Koenig, MK; Northrup, H; Saavedra, H; Soler-Alfonso, C | 1 |
| Boneh, A; Ferdinandusse, S; Peters, H; Pitt, J; Ruiter, JP; Wanders, RJ | 1 |
1 review(s) available for valine and Leigh Disease
| Article | Year |
|---|---|
Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.
Topics: Child; Enoyl-CoA Hydratase; Female; Humans; Leigh Disease; Mutation; Valine | 2022 |
8 other study(ies) available for valine and Leigh Disease
| Article | Year |
|---|---|
ECHS1 deficiency and its biochemical and clinical phenotype.
Topics: Animals; Cardiomyopathies; Enoyl-CoA Hydratase; Fatty Acids; Guinea Pigs; Leigh Disease; Lipid Metabolism, Inborn Errors; Mitochondrial Myopathies; Mitochondrial Trifunctional Protein; Nervous System Diseases; Phenotype; Quality of Life; Rhabdomyolysis; Valine | 2022 |
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Chorea; Coenzyme A; Dystonia; Dystonic Disorders; Enoyl-CoA Hydratase; Humans; Leigh Disease; Movement Disorders; Thiolester Hydrolases; Valine | 2022 |
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Brain; Child, Preschool; Dystonia; Enoyl-CoA Hydratase; Female; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Infant; Internationality; Leigh Disease; Magnetic Resonance Imaging; Male; Metabolic Networks and Pathways; Mutation; Phenotype; Survival Rate; Thiolester Hydrolases; Valine | 2021 |
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings.
Topics: Acetylcysteine; Cysteamine; Diet Therapy; Enoyl-CoA Hydratase; Family; Female; Genetic Testing; Humans; Infant; Japan; Leigh Disease; Magnetic Resonance Imaging; Male; Mutation; Pedigree; Siblings; Treatment Outcome; Valine | 2021 |
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Topics: Enoyl-CoA Hydratase; Fatal Outcome; Female; Humans; Infant; Leigh Disease; Male; Metabolic Networks and Pathways; Mutation; Siblings; Thiolester Hydrolases; Valine | 2014 |
Leigh syndrome: the genetic heterogeneity story continues.
Topics: Enoyl-CoA Hydratase; Female; Humans; Leigh Disease; Male; Metabolic Networks and Pathways; Valine | 2014 |
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.
Topics: Brain; Child, Preschool; Family Health; Female; Humans; Leigh Disease; Magnetic Resonance Imaging; Mutation; Thiolester Hydrolases; Valine | 2015 |
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Child; Cysteine; Enoyl-CoA Hydratase; Female; Fibroblasts; Glutathione; Humans; Infant; Leigh Disease; Mass Screening; Mutation; Prognosis; Thiolester Hydrolases; Valine | 2015 |