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aminoimidazole carboxamide and Metabolism, Inborn Errors

aminoimidazole carboxamide has been researched along with Metabolism, Inborn Errors in 4 studies

Research

Studies (4)

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

Authors

AuthorsStudies
Antonopoulos, C; Colman, RF; Currier, J; De Zoysa Ariyananda, L1
Bitoun, P; Heron, B; Marie, S; Timmerman, T; Van Den Berghe, G; Vincent, MF1
Adam, T; Friedecký, D; Hornik, P; Vyskocilová, P1
Marie, S; Race, V; Van den Berghe, G; Vincent, MF1

Other Studies

4 other study(ies) available for aminoimidazole carboxamide and Metabolism, Inborn Errors

ArticleYear
In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes.
    Biochemistry, 2011, Mar-01, Volume: 50, Issue:8

    Topics: Adenylosuccinate Lyase; Amino Acid Sequence; Aminoimidazole Carboxamide; Area Under Curve; Electrophoresis, Polyacrylamide Gel; Enzyme Stability; Histidine; Humans; Kinetics; Metabolism, Inborn Errors; Models, Molecular; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutant Proteins; Mutation; Protein Conformation; Protein Denaturation; Protein Engineering; Protein Renaturation; Recombinant Fusion Proteins; Ribonucleotides; Succinic Acid; Temperature

2011
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.
    American journal of human genetics, 2004, Volume: 74, Issue:6

    Topics: Aminoimidazole Carboxamide; Blindness; Child, Preschool; Erythrocytes; Female; Fibroblasts; Humans; Hydroxymethyl and Formyl Transferases; Metabolism, Inborn Errors; Molecular Sequence Data; Mutation; Nucleotide Deaminases; Phosphoribosylaminoimidazolecarboxamide Formyltransferase; Purines; Recombinant Proteins; Ribonucleotides

2004
Diagnosing AICA-ribosiduria by capillary electrophoresis.
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2006, Oct-20, Volume: 843, Issue:1

    Topics: Adult; Aminoimidazole Carboxamide; Electrophoresis, Capillary; Female; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Ribonucleosides

2006
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