Page last updated: 2024-08-21

aminoimidazole carboxamide and Autism

aminoimidazole carboxamide has been researched along with Autism in 12 studies

Research

Studies (12)

TimeframeStudies, this research(%)All Research%
pre-19903 (25.00)18.7374
1990's0 (0.00)18.2507
2000's2 (16.67)29.6817
2010's6 (50.00)24.3611
2020's1 (8.33)2.80

Authors

AuthorsStudies
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, M1
Duval, N; Ghosh, K; Patterson, D; Ray, SP; Shaheen, SE; Wilkinson, TG1
Adamkova, V; Cermakova, R; Jurecka, A; Kmoch, S; Krijt, J; Skopova, V; Zikanova, M1
Baresova, V; Kmoch, S; Krijt, J; Krijt, M; Skopova, V; Zikanova, M1
Jurecka, A; Kmoch, S; Krijt, J; Tylki-Szymanska, A; Zikanova, M1
Chen, BC; Duley, JA; Khoo, TB; McGown, IN; Ngu, LH; Pitt, J; Thong, MK; Yunus, ZM1
Calkins, LA; Capodagli, GC; Deaton, MK; Ghosh, K; Patterson, D; Pegan, SD; Ray, SP; Sawle, L1
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, M1
Jaeken, J; Van den Berghe, G2
Allegrini, S; Camici, M; Garcia-Gil, M; Jacomelli, G; Micheli, V; Peruzzi, L; Pesi, R; Tozzi, MG1
Gruber, HE; Laikind, PK; Seegmiller, JE1

Other Studies

12 other study(ies) available for aminoimidazole carboxamide and Autism

ArticleYear
Pathway-specific effects of ADSL deficiency on neurodevelopment.
    eLife, 2022, 02-08, Volume: 11

    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.
    Biochimica et biophysica acta, 2013, Volume: 1834, Issue:8

    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.
    Clinical biochemistry, 2013, Volume: 46, Issue:18

    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.
    Clinical biochemistry, 2015, Volume: 48, Issue:1-2

    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.
    Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2

    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.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    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.
    Biochemistry, 2012, Aug-21, Volume: 51, Issue:33

    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.
    Journal of magnetic resonance imaging : JMRI, 2013, Volume: 37, Issue:4

    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.
    Lancet (London, England), 1984, Nov-10, Volume: 2, Issue:8411

    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.
    Neuroreport, 2000, Jun-26, Volume: 11, Issue:9

    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.
    Advances in experimental medicine and biology, 1986, Volume: 195 Pt A

    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.
    Analytical biochemistry, 1986, Volume: 156, Issue:1

    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