Page last updated: 2024-08-17

adenosine monophosphate and Purine Pyrimidine Metabolism, Inborn Errors

adenosine monophosphate has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19903 (37.50)18.7374
1990's3 (37.50)18.2507
2000's0 (0.00)29.6817
2010's2 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Chen, BC; Duley, JA; Khoo, TB; McGown, IN; Ngu, LH; Pitt, J; Thong, MK; Yunus, ZM1
Calkins, LA; Capodagli, GC; Deaton, MK; Ghosh, K; Patterson, D; Pegan, SD; Ray, SP; Sawle, L1
Fox, IH1
Domkin, VD; Lazebnik, TA; Smirnov, MN1
Fujimori, S1
Mertz, DP1
Jaeken, J; Van den Bergh, F; Van den Berghe, G; Vincent, MF1
Balis, ME; Cox, RP; Dancis, J; Silvers, DN1

Reviews

2 review(s) available for adenosine monophosphate and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
[Adenylosuccinase deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Adenosine Monophosphate; Adenylosuccinate Lyase; Diagnosis, Differential; Humans; Mutation; Prognosis; Purine-Pyrimidine Metabolism, Inborn Errors

1998
[Theory of pathogenesis in primary hyperuricamia].
    Medizinische Klinik, 1975, Jul-11, Volume: 70, Issue:28-29

    Topics: Adenosine Monophosphate; Adult; Child; Female; Glucosephosphates; Glycine; Gout; Humans; Kidney; Lesch-Nyhan Syndrome; Liver; Male; Menstruation; Metabolic Diseases; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribose-Phosphate Pyrophosphokinase; Sex Factors; Uric Acid

1975

Other Studies

6 other study(ies) available for adenosine monophosphate and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    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.
    Biochemistry, 2012, Aug-21, Volume: 51, Issue:33

    Topics: Adenosine Monophosphate; Adenylosuccinate Lyase; Amino Acid Sequence; Aminoimidazole Carboxamide; Autistic Disorder; Humans; Mutation, Missense; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; Sequence Alignment

2012
Metabolic basis for disorders of purine nucleotide degradation.
    Metabolism: clinical and experimental, 1981, Volume: 30, Issue:6

    Topics: Adenosine Deaminase; Adenosine Monophosphate; Adenosine Triphosphate; AMP Deaminase; Anemia; Animals; Deoxyribonucleotides; Female; Gout; Humans; Hypoxia; Male; Nucleotidases; Phosphorylation; Purine Nucleotides; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribonucleotides; Uric Acid; Urinary Calculi; Xanthine Oxidase

1981
A new diagnostic technique for adenylosuccinate lyase deficiency.
    Journal of inherited metabolic disease, 1995, Volume: 18, Issue:3

    Topics: Adenosine Monophosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Chromatography, Ion Exchange; Humans; Infant; Infant, Newborn; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides; Spectrophotometry, Ultraviolet

1995
Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children.
    Advances in experimental medicine and biology, 1991, Volume: 309B

    Topics: Adenosine Monophosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Cells, Cultured; Child; Fibroblasts; Humans; Kinetics; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribonucleotides

1991
Detection of the heterozygote in Lesch-Nyhan disease by hair-root analysis.
    The New England journal of medicine, 1972, 02-24, Volume: 286, Issue:8

    Topics: Adenosine Monophosphate; Athetosis; Clinical Enzyme Tests; Culture Techniques; Female; Fibroblasts; Hair; Heterozygote; Humans; Hypoxanthines; Intellectual Disability; Lesch-Nyhan Syndrome; Male; Mosaicism; Pentosyltransferases; Phosphoric Acids; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose; Scalp; Self Mutilation; Tritium

1972