Page last updated: 2024-09-03

adenylosuccinate and Deficiency, Mental

adenylosuccinate has been researched along with Deficiency, Mental in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (66.67)18.2507
2000's1 (33.33)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Jaeken, J; Van den Bergh, F; Van den Berghe, G; Vincent, MF2
Marie, S; Race, V; Van den Berghe, G; Vincent, MF1

Other Studies

3 other study(ies) available for adenylosuccinate and Deficiency, Mental

ArticleYear
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
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
    Human molecular genetics, 2000, Sep-01, Volume: 9, Issue:14

    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