glycine has been researched along with Electron Transport Chain Deficiencies, Mitochondrial in 7 studies
Excerpt | Relevance | Reference |
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"Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined." | 7.72 | Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S, 2004) |
"Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined." | 3.72 | Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S, 2004) |
"Several of these syndromes are associated with an encephalopathy that characteristically shows episodes of rapid neurological deterioration and the development of acute cerebral lesions." | 1.36 | Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. ( Bindoff, LA; Engelsen, BE; Ersland, L; Moen, G; Mørk, SJ; Neckelmann, G; Tzoulis, C; Viscomi, C; Zeviani, M, 2010) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 4 (57.14) | 29.6817 |
2010's | 3 (42.86) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
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Majid, H | 1 |
Jafri, L | 1 |
Khan, AH | 1 |
Ali, ZZ | 1 |
Jamil, A | 1 |
Yusufzai, N | 1 |
Fatimah, M | 1 |
Afroze, B | 1 |
Jin, LW | 1 |
Horiuchi, M | 1 |
Wulff, H | 1 |
Liu, XB | 1 |
Cortopassi, GA | 1 |
Erickson, JD | 1 |
Maezawa, I | 1 |
Tzoulis, C | 1 |
Neckelmann, G | 1 |
Mørk, SJ | 1 |
Engelsen, BE | 1 |
Viscomi, C | 1 |
Moen, G | 1 |
Ersland, L | 1 |
Zeviani, M | 1 |
Bindoff, LA | 1 |
Haut, S | 1 |
de Villemeur, TB | 1 |
Brivet, M | 1 |
Guiochon-Mantel, A | 1 |
Boutron, A | 1 |
Rustin, P | 1 |
Legrand, A | 1 |
Slama, A | 1 |
Korman, SH | 1 |
Kanazawa, N | 1 |
Abu-Libdeh, B | 1 |
Gutman, A | 1 |
Tsujino, S | 1 |
Baumgartner, MR | 1 |
Dantas, MF | 1 |
Suormala, T | 1 |
Almashanu, S | 1 |
Giunta, C | 1 |
Friebel, D | 1 |
Gebhardt, B | 1 |
Fowler, B | 1 |
Hoffmann, GF | 1 |
Baumgartner, ER | 1 |
Valle, D | 1 |
Chan, SS | 1 |
Longley, MJ | 1 |
Copeland, WC | 1 |
7 other studies available for glycine and Electron Transport Chain Deficiencies, Mitochondrial
Article | Year |
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Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Cross-Sectional Studies; | 2018 |
Dysregulation of glutamine transporter SNAT1 in Rett syndrome microglia: a mechanism for mitochondrial dysfunction and neurotoxicity.
Topics: Adenosine Triphosphate; Amino Acid Transport System A; Animals; Glutamic Acid; Glycine; Methyl-CpG-B | 2015 |
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
Topics: Arginine; Brain; Brain Diseases; Cerebellum; Cysteine; Diffuse Cerebral Sclerosis of Schilder; Diffu | 2010 |
The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
Topics: Amino Acid Sequence; Aspartic Acid; Child, Preschool; Cytochromes b; DNA, Mitochondrial; Electron Tr | 2004 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arab | 2004 |
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
Topics: Alleles; Base Sequence; Biotin; Carbon-Carbon Ligases; DNA Mutational Analysis; Dose-Response Relati | 2004 |
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
Topics: Amino Acid Sequence; Amino Acid Substitution; Catalytic Domain; DNA; DNA Polymerase gamma; DNA-Direc | 2006 |