aminoimidazole carboxamide has been researched along with Autism in 12 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 3 (25.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 2 (16.67) | 29.6817 |
2010's | 6 (50.00) | 24.3611 |
2020's | 1 (8.33) | 2.80 |
Authors | Studies |
---|---|
Boeckx, C; Burkhalter, MD; Dutto, I; Gerhards, J; Herrera, A; Junza, A; Lüders, J; Philipp, M; Pons, S; Škopová, V; Smak, JA; Souckova, O; Stracker, TH; Yanes, O; Zikánová, M | 1 |
Duval, N; Ghosh, K; Patterson, D; Ray, SP; Shaheen, SE; Wilkinson, TG | 1 |
Adamkova, V; Cermakova, R; Jurecka, A; Kmoch, S; Krijt, J; Skopova, V; Zikanova, M | 1 |
Baresova, V; Kmoch, S; Krijt, J; Krijt, M; Skopova, V; Zikanova, M | 1 |
Jurecka, A; Kmoch, S; Krijt, J; Tylki-Szymanska, A; Zikanova, M | 1 |
Chen, BC; Duley, JA; Khoo, TB; McGown, IN; Ngu, LH; Pitt, J; Thong, MK; Yunus, ZM | 1 |
Calkins, LA; Capodagli, GC; Deaton, MK; Ghosh, K; Patterson, D; Pegan, SD; Ray, SP; Sawle, L | 1 |
Barker, PB; De Boer, L; Engelke, U; Fahrner, JA; Horská, A; Lin, DD; Maegawa, GH; Marie, S; Morava, E; Van der Graaf, M; Vining, E; Wevers, RA; Willemsen, MA; Zulfiqar, M | 1 |
Jaeken, J; Van den Berghe, G | 2 |
Allegrini, S; Camici, M; Garcia-Gil, M; Jacomelli, G; Micheli, V; Peruzzi, L; Pesi, R; Tozzi, MG | 1 |
Gruber, HE; Laikind, PK; Seegmiller, JE | 1 |
12 other study(ies) available for aminoimidazole carboxamide and Autism
Article | Year |
---|---|
Pathway-specific effects of ADSL deficiency on neurodevelopment.
Topics: Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Animals; Autism Spectrum Disorder; Autistic Disorder; Cell Cycle; Cell Cycle Proteins; Cell Line; Chickens; Ciliopathies; DNA Damage; Humans; Microcephaly; Microtubule-Associated Proteins; Neurogenesis; Phenotype; Phosphoproteins; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribonucleotides; Zebrafish | 2022 |
Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Chromatography, High Pressure Liquid; Electrochemistry; Homozygote; Humans; Kinetics; Mutagenesis, Site-Directed; Mutation, Missense; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; Substrate Specificity | 2013 |
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Bacterial Proteins; Child, Preschool; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Enterococcus faecalis; Enzymes; False Negative Reactions; Humans; Klebsiella pneumoniae; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides; Tandem Mass Spectrometry; Urine | 2013 |
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Carbon Isotopes; Chromatography, Liquid; Dried Blood Spot Testing; Humans; Infant, Newborn; Limit of Detection; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Standards; Ribonucleosides; Tandem Mass Spectrometry | 2015 |
D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Blood Glucose; Child; Child, Preschool; Creatinine; Female; Growth Disorders; Humans; Poland; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides; Ribose; Seizures; Severity of Illness Index; Treatment Failure; Uric Acid | 2008 |
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
Topics: Adenosine; Adenosine Monophosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Biomarkers; Child Development; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Genetic Predisposition to Disease; Genetic Testing; Heterozygote; Humans; Infant; Infant, Newborn; Malaysia; Male; Mutation; Myoclonus; Phenotype; Predictive Value of Tests; Psychomotor Disorders; Psychomotor Performance; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides; Seizures; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2010 |
Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.
Topics: Adenosine Monophosphate; Adenylosuccinate Lyase; Amino Acid Sequence; Aminoimidazole Carboxamide; Autistic Disorder; Humans; Mutation, Missense; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; Sequence Alignment | 2012 |
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Brain; Developmental Disabilities; DNA Mutational Analysis; Female; Humans; Image Enhancement; Image Interpretation, Computer-Assisted; Infant; Magnetic Resonance Spectroscopy; Male; Psychomotor Disorders; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides | 2013 |
An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.
Topics: Adenosine; Aminoimidazole Carboxamide; Autistic Disorder; Body Fluids; Child, Preschool; Chromatography, Ion Exchange; Female; Humans; Hydrolysis; Infant; Male; Psychomotor Disorders; Purines; Ribonucleosides; Spectrophotometry, Ultraviolet; Succinates | 1984 |
Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients.
Topics: 5'-Nucleotidase; Adolescent; Adult; Aminoimidazole Carboxamide; Animals; Apoptosis; Autistic Disorder; Child; Cytosol; Erythrocytes; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Male; Mice; Middle Aged; Nervous System Diseases; Reference Values; Ribonucleosides; Ribonucleotides; Tumor Cells, Cultured; Uric Acid | 2000 |
Adenylosuccinase deficiency.
Topics: 5'-Nucleotidase; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Child; Female; Humans; Kidney; Kinetics; Lyases; Male; Nucleotidases; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides; Ribonucleotides; Tissue Distribution | 1986 |
Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Chromatography, High Pressure Liquid; Creatinine; Ethylenediamines; Humans; Imidazoles; Lyases; Purine-Pyrimidine Metabolism, Inborn Errors; Reagent Strips; Ribonucleosides; Ribonucleotides; Spectrophotometry | 1986 |