allysine has been researched along with Aura in 16 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 1 (6.25) | 29.6817 |
2010's | 14 (87.50) | 24.3611 |
2020's | 1 (6.25) | 2.80 |
Authors | Studies |
---|---|
Bouchereau, J; Schiff, M | 1 |
Crowther, LM; Mathis, D; Plecko, B; Poms, M | 1 |
Gong, P; Jiang, S; Jiang, Y; Li, H; Wang, J; Wu, M; Wu, Y; Xue, J; Yang, W; Yang, Z; Yuzyuk, T; Zhang, Y | 1 |
Gospe, SM; Hahn, SH; Jung, S; Tran, NT | 1 |
Ferrer-López, I; Merinero, B; Pérez-Cerdá, C; Ruiz-Sala, P; Ugarte, M | 1 |
Qin, J; Yang, ZX | 1 |
Arruda, P; Eberlin, MN; Laranjeira, ÂB; MacKenzie, A; Marques, LA; Pena, IA; Yunes, JA | 1 |
Al Teneiji, A; Bruun, TU; Cordeiro, D; Inbar-Feigenberg, M; Mercimek-Mahmutoglu, S; Patel, J; Struys, E; Weiss, S | 1 |
Cha, SS; Cheng, CH; Fong, WP; Lam, YM; Tang, WK; Wong, KB | 1 |
Aylett, S; Baxter, P; Christensen, E; Clayton, PT; Craigen, WJ; De Lonlay, P; Dulac, O; Feillet, F; Footitt, EJ; Hemingway, C; Hughes, MI; Jakobs, C; Marlow, N; Mills, KA; Mills, PB; Nabbout, R; Pike, MG; Rennie, J; Schmitt, B; Struys, EA; Tuschl, K; Varadkar, S; Zuberi, SM | 1 |
Bok, LA; Emal, D; Houterman, S; Jakobs, C; Struys, EA; Willemsen, MA | 1 |
Connolly, MB; Coulter-Mackie, M; Horvath, GA; Jakobs, C; Mercimek-Mahmutoglu, S; Nelson, T; Sargent, M; Stockler-Ipsiroglu, S; Struys, E; Waters, PJ | 1 |
Alfadhel, M; Coulter-Mackie, M; Sirrs, S; Stockler-Ipsiroglu, S; Struys, E; Szeitz, A; Waters, PJ | 1 |
Bok, LA; Cheng, B; Collet, JP; Connolly, M; Coughlin, CR; Das, AM; Gospe, SM; Hartmann, H; Jaggumantri, S; Jakobs, C; Mercimek-Mahmutoglu, S; Meyer, U; Plecko, BR; Sinclair, G; Stockler, S; Struys, E; van der Lee, JH; Van Hove, J; van Karnebeek, CD | 1 |
Al-Saman, AS; Rizk, TM | 1 |
Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B | 1 |
2 review(s) available for allysine and Aura
Article | Year |
---|---|
Inherited Disorders of Lysine Metabolism: A Review.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Carnitine; Epilepsy; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Metabolic Diseases; Pyridoxal Phosphate; Pyridoxine | 2020 |
[Advances in clinical and molecular genetic research on pyridoxine dependent epilepsy].
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Anticonvulsants; Biomarkers; Brain; DNA Mutational Analysis; Electroencephalography; Epilepsy; Genetic Association Studies; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Mutation, Missense; Prognosis; Pyridoxine; Seizures; Status Epilepticus | 2013 |
14 other study(ies) available for allysine and Aura
Article | Year |
---|---|
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Epilepsy; Humans; Lysine; Metabolic Networks and Pathways; Pipecolic Acids; Vitamin B 6 | 2019 |
Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Biomarkers; Child; Child, Preschool; Chromatography, Liquid; Epilepsy; Female; Humans; Infant; Lysine; Male; Mass Screening; Picolinic Acids; Pipecolic Acids; Tandem Mass Spectrometry | 2019 |
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
Topics: 2-Aminoadipic Acid; Biomarkers; Chromatography, Liquid; Epilepsy; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Retrospective Studies; Tandem Mass Spectrometry | 2013 |
Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.
Topics: 2-Aminoadipic Acid; Adolescent; Child, Preschool; Chromatography, Liquid; Epilepsy; Humans; Infant; Infant, Newborn; Linear Models; Metal Metabolism, Inborn Errors; Reproducibility of Results; Sensitivity and Specificity; Tandem Mass Spectrometry | 2014 |
Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE).
Topics: 2-Aminoadipic Acid; Animals; Epilepsy; Female; Lysine; Metabolic Networks and Pathways; Mice; Mice, Inbred C57BL; Picolinic Acids; Pyridoxal Phosphate | 2017 |
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Adolescent; Aldehyde Dehydrogenase; Arginine; Child; Child, Preschool; Cohort Studies; Epilepsy; Female; Genotype; Humans; Infant; Lysine; Male; Mutation, Missense; Phenotype; Pyridoxine; Retrospective Studies; Seizures; Treatment Outcome; Vitamins | 2017 |
The crystal structure of seabream antiquitin reveals the structural basis of its substrate specificity.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Animals; Crystallography, X-Ray; Epilepsy; Fish Proteins; Humans; Mutation; NAD; Protein Conformation; Pyridoxine; Sea Bream; Substrate Specificity | 2008 |
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Biomarkers; Epilepsy; Female; Genotype; Humans; Infant; Male; Mutation, Missense; Phenotype; Pyridoxine | 2010 |
The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Diet; Epilepsy; Humans; Lysine; Picolinic Acids | 2012 |
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Acidosis, Lactic; Aldehyde Dehydrogenase; Alleles; Anticonvulsants; Brain; Diffusion Magnetic Resonance Imaging; DNA Mutational Analysis; Electroencephalography; Epilepsy; Female; Follow-Up Studies; Genetic Carrier Screening; Humans; Hypoglycemia; Infant; Infant, Newborn; Infusions, Intravenous; Magnetic Resonance Imaging; Mutation, Missense; Pyridoxine; Temporal Lobe; Thalamus | 2012 |
Variability of phenotype in two sisters with pyridoxine dependent epilepsy.
Topics: 2-Aminoadipic Acid; Disease Progression; Epilepsy; Female; Humans; Phenotype; Siblings; Young Adult | 2012 |
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Child; Child, Preschool; Cognition; Diet; Epilepsy; Female; Humans; Infant; Longitudinal Studies; Lysine; Male; Pipecolic Acids; Pyridoxine | 2012 |
A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Electroencephalography; Epilepsy; Humans; Infant; Magnetic Resonance Imaging; Male; Premature Birth; Pyridoxine; Vitamin B Complex | 2012 |
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Brain; Child, Preschool; Consanguinity; Developmental Disabilities; Diagnosis, Differential; Diffusion Magnetic Resonance Imaging; DNA Mutational Analysis; Electroencephalography; Epilepsy; Exons; Female; Genetic Carrier Screening; Homozygote; Humans; Infant; Infant, Newborn; Leucovorin; Male; Metal Metabolism, Inborn Errors; Molybdoferredoxin; Neurologic Examination; Pyridoxal Phosphate; Pyridoxine; Sequence Analysis, DNA; Sulfurtransferases | 2012 |