aminoimidazole carboxamide has been researched along with Intellectual Disability in 6 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 3 (50.00) | 18.2507 |
| 2000's | 2 (33.33) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (16.67) | 2.80 |
| Authors | Studies |
|---|---|
| Billiemaz, K; Ceballos, I; Denommé-Pichon, AS; Héron, B; Imbard, A; Kuentz, P; Marie, S; Piraud, M; Ramond, F; Rio, M; Touraine, R; Vincent, MF | 1 |
| Bahi-Buisson, N; Benoist, JF; Ceballos-Picot, I; Desguerre, I; Gitiaux, C; Marie, S; Rio, M; Valayannopoulos, V; Verrieres, S; Vincent, MF | 1 |
| Dixon, JE; Stone, RL; Zalkin, H | 1 |
| Jaeken, J; Van den Bergh, F; Van den Berghe, G; Vincent, MF | 2 |
| Marie, S; Race, V; Van den Berghe, G; Vincent, MF | 1 |
6 other study(ies) available for aminoimidazole carboxamide and Intellectual Disability
| Article | Year |
|---|---|
AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
Topics: Aminoimidazole Carboxamide; Child; Child, Preschool; Congenital Abnormalities; Epilepsy; Female; Humans; Hydroxymethyl and Formyl Transferases; Infant; Infant, Newborn; Intellectual Disability; Male; Multienzyme Complexes; Mutation; Nucleotide Deaminases; Phenotype; Ribonucleosides | 2020 |
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 |
Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase.
Topics: Adenylosuccinate Lyase; Amino Acid Sequence; Aminoimidazole Carboxamide; Base Sequence; Chromatography, Gel; Chromatography, Ion Exchange; Gene Expression; Humans; Hydrogen-Ion Concentration; Intellectual Disability; Kinetics; Molecular Sequence Data; Mutagenesis, Site-Directed; Oligodeoxyribonucleotides; Plasmids; Point Mutation; Polymerase Chain Reaction; Recombinant Proteins; Ribonucleotides; Substrate Specificity | 1993 |
Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl.
Topics: Adenosine Monophosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Binding, Competitive; Cells, Cultured; Child; Chromatography, Ion Exchange; Female; Fibroblasts; Humans; Hydrogen-Ion Concentration; Intellectual Disability; Kinetics; Nucleotides; Potassium Chloride; Ribonucleotides; Substrate Specificity | 1993 |
Functional studies in fibroblasts of adenylosuccinase-deficient children.
Topics: Adenosine Monophosphate; Adenosine Triphosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Cells, Cultured; Child; Fibroblasts; Formates; Humans; Hypoxanthine; Hypoxanthines; Intellectual Disability; Ribonucleotides | 1993 |
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Topics: 5' Untranslated Regions; Adenosine Monophosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Chromatography, Gel; Electrophoresis, Polyacrylamide Gel; Fibroblasts; Genotype; Homozygote; Humans; Intellectual Disability; Kinetics; Metabolism, Inborn Errors; Mutation; Mutation, Missense; Recombinant Fusion Proteins; Recombinant Proteins; Ribonucleosides; Temperature; Time Factors | 2000 |