Page last updated: 2024-09-04

saicar and Intellectual Disability

saicar has been researched along with Intellectual Disability in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (75.00)18.2507
2000's1 (25.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bahi-Buisson, N; Benoist, JF; Ceballos-Picot, I; Desguerre, I; Gitiaux, C; Marie, S; Rio, M; Valayannopoulos, V; Verrieres, S; Vincent, MF1
Dixon, JE; Stone, RL; Zalkin, H1
Jaeken, J; Van den Bergh, F; Van den Berghe, G; Vincent, MF2

Other Studies

4 other study(ies) available for saicar and Intellectual Disability

ArticleYear
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
Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase.
    The Journal of biological chemistry, 1993, Sep-15, Volume: 268, Issue:26

    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.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:2

    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.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:2

    Topics: Adenosine Monophosphate; Adenosine Triphosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Cells, Cultured; Child; Fibroblasts; Formates; Humans; Hypoxanthine; Hypoxanthines; Intellectual Disability; Ribonucleotides

1993