glycine has been researched along with Genetic Diseases in 7 studies
Excerpt | Relevance | Reference |
---|---|---|
"AGT deficiency causes primary hyperoxaluria type 1 (PH1), a rare autosomal recessive disorder, due to a marked increase in hepatic oxalate production." | 1.35 | Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation. ( Cellini, B; Lorenzetto, A; Montioli, R; Paiardini, A; Voltattorni, CB, 2009) |
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 |
---|---|
Haas, D | 1 |
Gan-Schreier, H | 1 |
Langhans, CD | 1 |
Anninos, A | 1 |
Haege, G | 1 |
Burgard, P | 1 |
Schulze, A | 1 |
Hoffmann, GF | 1 |
Okun, JG | 1 |
Cellini, B | 1 |
Montioli, R | 1 |
Paiardini, A | 1 |
Lorenzetto, A | 1 |
Voltattorni, CB | 1 |
Carta, E | 1 |
Chung, SK | 2 |
James, VM | 2 |
Robinson, A | 1 |
Gill, JL | 1 |
Remy, N | 1 |
Vanbellinghen, JF | 1 |
Drew, CJ | 1 |
Cagdas, S | 1 |
Cameron, D | 1 |
Cowan, FM | 1 |
Del Toro, M | 1 |
Graham, GE | 1 |
Manzur, AY | 1 |
Masri, A | 1 |
Rivera, S | 1 |
Scalais, E | 1 |
Shiang, R | 1 |
Sinclair, K | 1 |
Stuart, CA | 1 |
Tijssen, MA | 1 |
Wise, G | 1 |
Zuberi, SM | 1 |
Harvey, K | 1 |
Pearce, BR | 1 |
Topf, M | 2 |
Thomas, RH | 2 |
Supplisson, S | 1 |
Rees, MI | 2 |
Harvey, RJ | 2 |
Giménez, C | 1 |
Pérez-Siles, G | 1 |
Martínez-Villarreal, J | 1 |
Arribas-González, E | 1 |
Jiménez, E | 1 |
Núñez, E | 1 |
de Juan-Sanz, J | 1 |
Fernández-Sánchez, E | 1 |
García-Tardón, N | 1 |
Ibáñez, I | 1 |
Romanelli, V | 1 |
Nevado, J | 1 |
Desviat, LR | 1 |
Aragón, C | 1 |
Zafra, F | 1 |
Lapunzina, P | 1 |
López-Corcuera, B | 1 |
Iida, K | 1 |
Teng, J | 1 |
Tada, T | 1 |
Saka, A | 1 |
Tamai, M | 1 |
Izumi-Nakaseko, H | 1 |
Adachi-Akahane, S | 1 |
Iida, H | 1 |
Byers, PH | 1 |
Legendre, P | 1 |
2 reviews available for glycine and Genetic Diseases
Article | Year |
---|---|
Folding defects in fibrillar collagens.
Topics: Amino Acid Substitution; Collagen; Genetic Diseases, Inborn; Glycine; Humans; Microfibrils; Mutation | 2001 |
The glycinergic inhibitory synapse.
Topics: Allosteric Regulation; Alternative Splicing; Amino Acid Transport Systems, Neutral; Animals; Brain; | 2001 |
2 trials available for glycine and Genetic Diseases
Article | Year |
---|---|
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Topics: Animals; DNA Mutational Analysis; Female; Genetic Diseases, Inborn; Glycine; Glycine Plasma Membrane | 2012 |
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
Topics: Amino Acid Substitution; Animals; Female; Genes, Dominant; Genetic Diseases, Inborn; Glycine; Glycin | 2012 |
3 other studies available for glycine and Genetic Diseases
Article | Year |
---|---|
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.
Topics: Case-Control Studies; Child; Creatine; Creatinine; Female; Gas Chromatography-Mass Spectrometry; Gen | 2014 |
Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.
Topics: Alleles; Amino Acid Substitution; Genetic Diseases, Inborn; Glycine; Glyoxylates; Humans; Hyperoxalu | 2009 |
Essential, completely conserved glycine residue in the domain III S2-S3 linker of voltage-gated calcium channel alpha1 subunits in yeast and mammals.
Topics: Amino Acid Substitution; Animals; Barium; Calcium Channels; Calcium Channels, L-Type; Genetic Diseas | 2007 |