allysine and Aura

allysine has been researched along with Aura in 16 studies

Research

Studies (16)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (6.25)29.6817
2010's14 (87.50)24.3611
2020's1 (6.25)2.80

Authors

AuthorsStudies
Bouchereau, J; Schiff, M1
Crowther, LM; Mathis, D; Plecko, B; Poms, M1
Gong, P; Jiang, S; Jiang, Y; Li, H; Wang, J; Wu, M; Wu, Y; Xue, J; Yang, W; Yang, Z; Yuzyuk, T; Zhang, Y1
Gospe, SM; Hahn, SH; Jung, S; Tran, NT1
Ferrer-López, I; Merinero, B; Pérez-Cerdá, C; Ruiz-Sala, P; Ugarte, M1
Qin, J; Yang, ZX1
Arruda, P; Eberlin, MN; Laranjeira, ÂB; MacKenzie, A; Marques, LA; Pena, IA; Yunes, JA1
Al Teneiji, A; Bruun, TU; Cordeiro, D; Inbar-Feigenberg, M; Mercimek-Mahmutoglu, S; Patel, J; Struys, E; Weiss, S1
Cha, SS; Cheng, CH; Fong, WP; Lam, YM; Tang, WK; Wong, KB1
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, SM1
Bok, LA; Emal, D; Houterman, S; Jakobs, C; Struys, EA; Willemsen, MA1
Connolly, MB; Coulter-Mackie, M; Horvath, GA; Jakobs, C; Mercimek-Mahmutoglu, S; Nelson, T; Sargent, M; Stockler-Ipsiroglu, S; Struys, E; Waters, PJ1
Alfadhel, M; Coulter-Mackie, M; Sirrs, S; Stockler-Ipsiroglu, S; Struys, E; Szeitz, A; Waters, PJ1
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, CD1
Al-Saman, AS; Rizk, TM1
Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B1

Reviews

2 review(s) available for allysine and Aura

ArticleYear
Inherited Disorders of Lysine Metabolism: A Review.
    The Journal of nutrition, 2020, 10-01, Volume: 150, Issue:Suppl 1

    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].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2013, Volume: 51, Issue:11

    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

Other Studies

14 other study(ies) available for allysine and Aura

ArticleYear
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:4

    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.
    Scientific reports, 2019, 08-06, Volume: 9, Issue:1

    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.
    Molecular genetics and metabolism, 2013, Volume: 110, Issue:3

    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.
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2014, Jan-01, Volume: 944

    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).
    Biochimica et biophysica acta. Molecular basis of disease, 2017, Volume: 1863, Issue:1

    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.
    Metabolic brain disease, 2017, Volume: 32, Issue:2

    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.
    FEBS letters, 2008, Sep-03, Volume: 582, Issue:20

    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).
    Brain : a journal of neurology, 2010, Volume: 133, Issue:Pt 7

    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.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:5

    Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Diet; Epilepsy; Humans; Lysine; Picolinic Acids

2012
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
    Pediatrics, 2012, Volume: 129, Issue:5

    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.
    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2012, Volume: 39, Issue:4

    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.
    Molecular genetics and metabolism, 2012, Volume: 107, Issue:3

    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.
    Neurosciences (Riyadh, Saudi Arabia), 2012, Volume: 17, Issue:4

    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.
    Pediatrics, 2012, Volume: 130, Issue:6

    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