adenosine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 30 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 14 (46.67) | 18.7374 |
| 1990's | 5 (16.67) | 18.2507 |
| 2000's | 5 (16.67) | 29.6817 |
| 2010's | 6 (20.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Duval, N; Ghosh, K; Patterson, D; Ray, SP; Shaheen, SE; Wilkinson, TG | 1 |
| Duley, JA; Freeman, JL; McGown, I; Munce, T; Pitt, JJ; van Werkhoven, MA | 1 |
| Adamkova, V; Cermakova, R; Jurecka, A; Kmoch, S; Krijt, J; Skopova, V; Zikanova, M | 1 |
| Baresova, V; Kmoch, S; Krijt, J; Krijt, M; Skopova, V; Zikanova, M | 1 |
| Jurecka, A; Kmoch, S; Krijt, J; Tylki-Szymanska, A; Zikanova, M | 1 |
| Bahi-Buisson, N; Benoist, JF; Ceballos-Picot, I; Desguerre, I; Gitiaux, C; Marie, S; Rio, M; Valayannopoulos, V; Verrieres, S; Vincent, MF | 1 |
| Chen, BC; Duley, JA; Khoo, TB; McGown, IN; Ngu, LH; Pitt, J; Thong, MK; Yunus, ZM | 1 |
| Barker, PB; De Boer, L; Engelke, U; Fahrner, JA; Horská, A; Lin, DD; Maegawa, GH; Marie, S; Morava, E; Van der Graaf, M; Vining, E; Wevers, RA; Willemsen, MA; Zulfiqar, M | 1 |
| Champion, M; Duley, JA; Fairbanks, LD; Kurian, MA; Marie, S; Marinaki, AM; Simmonds, HA; van den Berghe, G; Vincent, MF | 1 |
| Hartmannová, H; Kmoch, S; Krijt, J; Zikánová, M | 1 |
| Grajkowska, W; Jurkiewicz, E; Kuśmierska, K; Lewandowska, E; Mierzewska, H; Rafałowska, J; Schmidt-Sidor, B; Stepień, T | 1 |
| Webster, HK | 1 |
| Seegmiller, JE; Thompson, LF | 1 |
| Ueland, PM | 1 |
| Chiba, P; Kraupp, M; Müller, MM | 1 |
| Kidouchi, K; Ohba, S; Sumi, S; Wada, Y | 1 |
| Blackburn, MR; Datta, SK; Kellems, RE | 1 |
| Bosschaart, AN; Duran, M; Hageman, G; Tien Poll-The, B; van den Bergh, FA | 1 |
| Hartmannová, H; Havlícek, V; Kmoch, S; Krijt, J; Sebesta, I | 1 |
| Corrigall, V; Panayi, GS; Simmonds, HA | 1 |
| Balis, ME | 1 |
| Chen, H; Cosstick, R; McLennan, AG | 1 |
| de Bree, PK; Duran, M; Fabery de Jonge, H; Wadman, SK | 1 |
| de Bree, PK; de Jonge, HF; Duran, M; Wadman, SK | 1 |
| Gruber, HE; Laikind, PK; Seegmiller, JE | 1 |
| Nakayama, DA; Valen, PA; Veum, JA; Wortmann, RL | 1 |
| de Bruyn, CH; Oei, TL | 1 |
| Chen, SH; Giblett, ER; Scott, R | 1 |
| Kelley, WN | 1 |
| Nyhan, WL; Sweetman, L | 1 |
4 review(s) available for adenosine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Role of purines in lymphocyte function.
Topics: 5'-Nucleotidase; Adenosine; Adenosine Deaminase; Animals; Cyclic AMP; Humans; Immunologic Deficiency Syndromes; Lupus Erythematosus, Systemic; Lymphocyte Activation; Lymphocytes; Macaca fascicularis; Malaria; Nucleotidases; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Receptors, Cell Surface; Receptors, Purinergic; T-Lymphocytes | 1984 |
Adenosine deaminase deficiency and severe combined immunodeficiency disease.
Topics: Adenine; Adenosine; Adenosine Deaminase; B-Lymphocytes; Cells, Cultured; Cyclic AMP; Humans; Immunologic Deficiency Syndromes; Lymphocyte Activation; Nucleoside Deaminases; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines; Ribonucleotide Reductases; T-Lymphocytes; Tissue Distribution | 1980 |
Pharmacological and biochemical aspects of S-adenosylhomocysteine and S-adenosylhomocysteine hydrolase.
Topics: Adenosine; Adenosylhomocysteinase; Animals; Catalysis; Chemical Phenomena; Chemistry, Physical; Genes; Homocysteine; Humans; Hydrolases; Kinetics; Protein Binding; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; S-Adenosylhomocysteine; Substrate Specificity; Tubercidin | 1982 |
Uric acid metabolism in man.
Topics: Adenine Phosphoribosyltransferase; Adenosine; Adenosine Deaminase; Animals; Cells, Cultured; Gout; Humans; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Nyhan Syndrome; Lymphocytes; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Rats; Ribose-Phosphate Pyrophosphokinase; Sex Chromosomes; Uric Acid; Xanthines | 1976 |
26 other study(ies) available for adenosine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Chromatography, High Pressure Liquid; Electrochemistry; Homozygote; Humans; Kinetics; Mutagenesis, Site-Directed; Mutation, Missense; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; Substrate Specificity | 2013 |
Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.
Topics: Adenosine; Adenylosuccinate Lyase; Administration, Oral; Autistic Disorder; Child, Preschool; Chromatography, Liquid; Electroencephalography; Genotype; High-Throughput Screening Assays; Humans; Longitudinal Studies; Male; Mutation; Purine-Pyrimidine Metabolism, Inborn Errors; S-Adenosylmethionine; Spectrometry, Mass, Electrospray Ionization | 2013 |
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Bacterial Proteins; Child, Preschool; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Enterococcus faecalis; Enzymes; False Negative Reactions; Humans; Klebsiella pneumoniae; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides; Tandem Mass Spectrometry; Urine | 2013 |
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Carbon Isotopes; Chromatography, Liquid; Dried Blood Spot Testing; Humans; Infant, Newborn; Limit of Detection; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Standards; Ribonucleosides; Tandem Mass Spectrometry | 2015 |
D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Blood Glucose; Child; Child, Preschool; Creatinine; Female; Growth Disorders; Humans; Poland; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides; Ribose; Seizures; Severity of Illness Index; Treatment Failure; Uric Acid | 2008 |
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 |
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
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 |
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Brain; Developmental Disabilities; DNA Mutational Analysis; Female; Humans; Image Enhancement; Image Interpretation, Computer-Assisted; Infant; Magnetic Resonance Spectroscopy; Male; Psychomotor Disorders; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides | 2013 |
Adenylosuccinate lyase deficiency--first British case.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Catalysis; Exons; Fatal Outcome; Female; Heterozygote; Humans; Infant, Newborn; Mutation; Phenotype; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribonucleotides | 2004 |
Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Biochemistry; Cations; Chemistry, Clinical; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Cloning, Molecular; DNA, Complementary; Humans; Mutation; Phosphorylation; Purine-Pyrimidine Metabolism, Inborn Errors; Recombinant Proteins; Ribonucleotides; Substrate Specificity; Time Factors | 2005 |
Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Brain; Brain Diseases, Metabolic, Inborn; Female; Humans; Infant; Infant, Newborn; Poland; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides | 2008 |
Enzymological aspects of disorders in purine metabolism.
Topics: Adenosine; Biological Transport, Active; Enzymes; Humans; Leukemia; Liver Diseases; Purine Nucleosides; Purine Nucleotides; Purine-Pyrimidine Metabolism, Inborn Errors; Purines | 1983 |
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Topics: Adenine; Adenosine; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Orotic Acid; Pseudouridine; Purine-Pyrimidine Metabolism, Inborn Errors; Uracil; Xanthine; Xanthines | 1995 |
Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency.
Topics: Adenosine; Adenosine Deaminase; Adenosylhomocysteinase; Animals; Antigens, CD; Antigens, Differentiation; B-Lymphocytes; Bone and Bones; Deoxyadenosines; Genetic Engineering; Hydrolases; Kidney; Lung; Lymphocyte Count; Lymphopenia; Mice; Pulmonary Valve Insufficiency; Purine-Pyrimidine Metabolism, Inborn Errors; Research Design; Severe Combined Immunodeficiency; Spleen; T-Lymphocytes; Thymus Gland; Tissue Distribution | 1998 |
Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Anticonvulsants; Death, Sudden; Epilepsy; Humans; Infant, Newborn; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides | 1998 |
Identification and determination of succinyladenosine in human cerebrospinal fluid.
Topics: Adenosine; Child; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Humans; Mass Spectrometry; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Standards; Reproducibility of Results; Spectrophotometry, Ultraviolet | 1999 |
A role for purine metabolism in the immune response: Adenosine-deaminase activity and deoxyadenosine catabolism.
Topics: Adenosine; Adenosine Deaminase; Adenosine Deaminase Inhibitors; Cell Survival; Cells, Cultured; Child; Concanavalin A; Cytotoxicity, Immunologic; Deoxyadenosines; Enzyme Inhibitors; Humans; Immunologic Deficiency Syndromes; In Vitro Techniques; Lectins; Lymphocyte Activation; Lymphocytes; Mitogens; Nucleoside Deaminases; Purine-Pyrimidine Metabolism, Inborn Errors | 1978 |
Properties of the diadenosine tetraphosphate nucleoside analogue, bis (N6-adenosyl)dodecane, and its possible use in the treatment of disorders of purine metabolism.
Topics: Adenosine; Adenosine Deaminase; Animals; Biological Transport; Cell Line; Cell Survival; Humans; Purine-Pyrimidine Metabolism, Inborn Errors | 1991 |
Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.
Topics: Adenosine; Adenylosuccinate Lyase; Adolescent; Aminoimidazole Carboxamide; Autoanalysis; Child; Chromatography, Ion Exchange; Chromatography, Thin Layer; Erythrocytes; Female; Humans; Imidazoles; Infant; Lyases; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribonucleosides; Uric Acid | 1986 |
Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Child; Chromatography, Thin Layer; Female; Humans; Infant; Infant, Newborn; Lyases; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleosides | 1986 |
Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Chromatography, High Pressure Liquid; Creatinine; Ethylenediamines; Humans; Imidazoles; Lyases; Purine-Pyrimidine Metabolism, Inborn Errors; Reagent Strips; Ribonucleosides; Ribonucleotides; Spectrophotometry | 1986 |
Myoadenylate deaminase deficiency: diagnosis by forearm ischemic exercise testing.
Topics: Adenosine; Adult; Ammonia; AMP Deaminase; Humans; Hypoxanthine; Hypoxanthines; Inosine; Ischemia; Lactates; Nucleotide Deaminases; Physical Exertion; Purine-Pyrimidine Metabolism, Inborn Errors | 1986 |
Purine metabolism in intact erythrocytes from controls and HG-PRT deficient individuals.
Topics: Adenine; Adenosine; Carbon Radioisotopes; Cell Membrane; Erythrocytes; Guanine; Guanine Nucleotides; Humans; Hypoxanthines; Inosine Nucleotides; Kinetics; Pentosephosphates; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Time Factors | 1973 |
Adenosine deaminase: demonstration of a "silent" gene associated with combined immunodeficiency disease.
Topics: Adenosine; Alleles; Aminohydrolases; Electrophoresis, Starch Gel; Erythrocytes; Female; Gene Frequency; Genotype; Heterozygote; Homozygote; Humans; Immunologic Deficiency Syndromes; Male; Pedigree; Phenotype; Polymorphism, Genetic; Purine-Pyrimidine Metabolism, Inborn Errors; Spectrophotometry, Ultraviolet | 1974 |
Pathophysiology of purine metabolism in man.
Topics: Adenosine; Alkaline Phosphatase; Amidinotransferases; Amidohydrolases; Glomerular Filtration Rate; Glucosephosphate Dehydrogenase; Gout; Guanine Nucleotides; Humans; Hypoxanthines; Kinetics; Lesch-Nyhan Syndrome; Pentosephosphates; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribose; Uric Acid; Xanthine Oxidase; Xanthines | 1974 |
Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject.
Topics: Adenine; Adenosine; Athetosis; Child; Chromatography, Gel; Chromatography, Ion Exchange; Formamides; Formates; Humans; Hypoxanthines; Imidazoles; Intellectual Disability; Lesch-Nyhan Syndrome; Male; Methods; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribonucleosides; Self Mutilation; Spectrophotometry; Ultraviolet Rays; Xanthines | 1970 |