aminoimidazole carboxamide has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 24 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 4 (16.67) | 18.7374 |
| 1990's | 6 (25.00) | 18.2507 |
| 2000's | 5 (20.83) | 29.6817 |
| 2010's | 8 (33.33) | 24.3611 |
| 2020's | 1 (4.17) | 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 |
| Bierau, J; Garbade, SF; Haas, D; Hauke, J; Hoffmann, GF; Klinke, G; Langhans, CD; Monostori, P; Okun, JG; Richter, S | 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 |
| Bahi-Buisson, N; Benoist, JF; Ceballos-Picot, I; Desguerre, I; Gitiaux, C; Marie, S; Rio, M; Valayannopoulos, V; Verrieres, S; Vincent, MF | 1 |
| Brockmann, K; Dechent, P; Dreha-Kulaczewski, S; Engelke, U; Gärtner, J; Heerschap, A; Helms, G; Henneke, M; van der Graaf, M; Wevers, RA; Willemsen, MA | 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 |
| Champion, M; Duley, JA; Fairbanks, LD; Kurian, MA; Marie, S; Marinaki, AM; Simmonds, HA; van den Berghe, G; Vincent, MF | 1 |
| Hartmannová, H; Kmoch, S; Krijt, J; Zikánová, M | 1 |
| Grajkowska, W; Jurkiewicz, E; Kuśmierska, K; Lewandowska, E; Mierzewska, H; Rafałowska, J; Schmidt-Sidor, B; Stepień, T | 1 |
| Domkin, VD; Lazebnik, TA; Smirnov, MN | 1 |
| Krijt, J; Sebesta, I; Svehlakova, A; Zeman, J; Zumrova, A | 1 |
| Capuozzo, E; Crifò, C; Giardini, O; Salerno, C | 1 |
| Bosschaart, AN; Duran, M; Hageman, G; Tien Poll-The, B; van den Bergh, FA | 1 |
| Celli, M; Crifò, C; D'Eufemia, P; Finocchiaro, R; Giardini, O; Iannetti, P; Salerno, C | 1 |
| Jaeken, J; Van den Bergh, F; Van den Berghe, G; Vincent, MF | 1 |
| Jaeken, J; Van den Berghe, G | 1 |
| de Bree, PK; Duran, M; Fabery de Jonge, H; Wadman, SK | 1 |
| de Bree, PK; de Jonge, HF; Duran, M; Wadman, SK | 1 |
| Gruber, HE; Laikind, PK; Seegmiller, JE | 1 |
24 other study(ies) available for aminoimidazole carboxamide and Purine Pyrimidine Metabolism, Inborn Errors
| 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 |
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.
Topics: Adenine; Adolescent; Adult; Aminoimidazole Carboxamide; Biomarkers; Child; Child, Preschool; Chromatography, Liquid; Female; Humans; Infant; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Quality Control; Reference Values; Ribonucleotides; Tandem Mass Spectrometry; Urea; Uridine | 2019 |
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 |
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
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 |
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
Topics: Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Child; Child, Preschool; Female; Humans; Hydrogen-Ion Concentration; Infant; Infant, Newborn; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Protons; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; S-Adenosylmethionine | 2010 |
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 |
Adenylosuccinate lyase deficiency--first British case.
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.
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.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Brain; Brain Diseases, Metabolic, Inborn; Female; Humans; Infant; Infant, Newborn; Poland; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides | 2008 |
A new diagnostic technique for adenylosuccinate lyase deficiency.
Topics: Adenosine Monophosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Chromatography, Ion Exchange; Humans; Infant; Infant, Newborn; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides; Spectrophotometry, Ultraviolet | 1995 |
Adenylosuccinate lyase deficiency in a Czech girl and two siblings.
Topics: Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Child; Child, Preschool; Female; Genes, Recessive; Humans; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; S-Adenosylmethionine | 1994 |
Anomalous response to intravenous fructose tolerance test in a case of deficit of adenylosuccinate lyase.
Topics: Adenosine Triphosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Blood Glucose; Child; Female; Fructose; Humans; Lymphocytes; Magnesium; Phosphates; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; S-Adenosylmethionine; Uric Acid | 1994 |
Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Anticonvulsants; Death, Sudden; Epilepsy; Humans; Infant, Newborn; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides | 1998 |
Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase.
Topics: Adenylosuccinate Lyase; Adolescent; Aminoimidazole Carboxamide; Creatinine; Female; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides; Ribose; Uric Acid | 1998 |
Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children.
Topics: Adenosine Monophosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Cells, Cultured; Child; Fibroblasts; Humans; Kinetics; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribonucleotides | 1991 |
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 |
Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.
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.
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.
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 |