Page last updated: 2024-08-21

aminoimidazole carboxamide and succinyladenosine

aminoimidazole carboxamide has been researched along with succinyladenosine in 20 studies

Research

Studies (20)

TimeframeStudies, this research(%)All Research%
pre-19904 (20.00)18.7374
1990's4 (20.00)18.2507
2000's7 (35.00)29.6817
2010's5 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Casaer, P; Jaeken, J; Van den Bergh, F; Van den Berghe, G; Vincent, MF1
de Bree, PK; Duran, M; Fabery de Jonge, H; Wadman, SK1
de Bree, PK; de Jonge, HF; Duran, M; Wadman, SK1
Gruber, HE; Laikind, PK; Seegmiller, JE1
Jaeken, J; Van den Berghe, G1
Gathof, BS; Gresser, U; Gross, M; Kölle, P1
Bosschaart, AN; Duran, M; Hageman, G; Tien Poll-The, B; van den Bergh, FA1
Duley, JA; Simmonds, HA; Stone, TW; van den Berghe, G; Vincent, MF1
Chrastina, P; Hansíková, H; Houstek, J; Kmoch, S; Krijt, J; Stratilová, L; Wenchich, L; Zeman, J1
Marie, S; Race, V; Van den Berghe, G; Vincent, MF1
Champion, M; Duley, JA; Fairbanks, LD; Kurian, MA; Marie, S; Marinaki, AM; Simmonds, HA; van den Berghe, G; Vincent, MF1
Hartmannová, H; Kmoch, S; Krijt, J; Zikánová, M1
Grajkowska, W; Jurkiewicz, E; Kuśmierska, K; Lewandowska, E; Mierzewska, H; Rafałowska, J; Schmidt-Sidor, B; Stepień, T1
Jurecka, A; Kmoch, S; Krijt, J; Tylki-Szymanska, A; Zikanova, M1
Bahi-Buisson, N; Benoist, JF; Ceballos-Picot, I; Desguerre, I; Gitiaux, C; Marie, S; Rio, M; Valayannopoulos, V; Verrieres, S; Vincent, MF1
Chen, BC; Duley, JA; Khoo, TB; McGown, IN; Ngu, LH; Pitt, J; Thong, MK; Yunus, ZM1
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
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

Other Studies

20 other study(ies) available for aminoimidazole carboxamide and succinyladenosine

ArticleYear
Adenylosuccinase deficiency: a newly recognized variant.
    Journal of inherited metabolic disease, 1992, Volume: 15, Issue:3

    Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Child; Chromatography, High Pressure Liquid; Female; Fibroblasts; Humans; Ribonucleosides

1992
Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.
    Clinica chimica acta; international journal of clinical chemistry, 1986, May-15, Volume: 156, Issue:3

    Topics: Adenosine; Adenylosuccinate Lyase; Adolescent; Aminoimidazole Carboxamide; Autoanalysis; Child; Chromatography, Ion Exchange; Chromatography, Thin Layer; Erythrocytes; Female; Humans; Imidazoles; Infant; Lyases; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribonucleosides; Uric Acid

1986
Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles.
    Advances in experimental medicine and biology, 1986, Volume: 195 Pt A

    Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Child; Chromatography, Thin Layer; Female; Humans; Infant; Infant, Newborn; Lyases; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides

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
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
Capillary electrophoresis for screening of adenylosuccinate lyase deficiency.
    Electrophoresis, 1995, Volume: 16, Issue:10

    Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Body Fluids; Electrophoresis, Capillary; Humans; Ribonucleosides; Spectrophotometry, Ultraviolet

1995
Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.
    Neuropediatrics, 1998, Volume: 29, Issue:1

    Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Anticonvulsants; Death, Sudden; Epilepsy; Humans; Infant, Newborn; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides

1998
Succinylpurines do not modify glutamate or adenosine effects in the CNS.
    Advances in experimental medicine and biology, 1998, Volume: 431

    Topics: Adenosine; Aminoimidazole Carboxamide; Animals; Evoked Potentials; Excitatory Postsynaptic Potentials; Glutamic Acid; Hippocampus; In Vitro Techniques; Kainic Acid; Rats; Ribonucleosides; Synaptic Transmission

1998
Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4

    Topics: Adenosine; Aminoimidazole Carboxamide; Central Nervous System Diseases; Female; Fumarate Hydratase; Fumarates; Humans; Infant; Purines; Ribonucleosides

2000
Adenylosuccinate lyase deficiency: from the clinics to molecular biology.
    Advances in experimental medicine and biology, 2000, Volume: 486

    Topics: Adenosine; Adenosine Monophosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Enzyme Stability; Gene Expression; Heating; Humans; Recombinant Fusion Proteins; Ribonucleotides

2000
Adenylosuccinate lyase deficiency--first British case.
    Nucleosides, nucleotides & nucleic acids, 2004, Volume: 23, Issue:8-9

    Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Catalysis; Exons; Fatal Outcome; Female; Heterozygote; Humans; Infant, Newborn; Mutation; Phenotype; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribonucleotides

2004
Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:4

    Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Biochemistry; Cations; Chemistry, Clinical; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Cloning, Molecular; DNA, Complementary; Humans; Mutation; Phosphorylation; Purine-Pyrimidine Metabolism, Inborn Errors; Recombinant Proteins; Ribonucleotides; Substrate Specificity; Time Factors

2005
Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.
    Folia neuropathologica, 2008, Volume: 46, Issue:1

    Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Brain; Brain Diseases, Metabolic, Inborn; Female; Humans; Infant; Infant, Newborn; Poland; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides

2008
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
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
    European journal of human genetics : EJHG, 2009, Volume: 17, Issue:1

    Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Angelman Syndrome; Behavior; Child; Chromatography, High Pressure Liquid; Consanguinity; Female; Humans; Intellectual Disability; Mutation, Missense; Pedigree; Phenotype; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; Sequence Analysis, DNA; Stereotyped Behavior

2009
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
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
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