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purine and Purine Pyrimidine Metabolism, Inborn Errors

purine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 19 studies

1H-purine : The 1H-tautomer of purine.
3H-purine : The 3H-tautomer of purine.
9H-purine : The 9H-tautomer of purine.
7H-purine : The 7H-tautomer of purine.

Research Excerpts

ExcerptRelevanceReference
"Allopurinol treatment was associated with a mean 74% reduction in urinary uric acid-to-creatinine ratio."1.34Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. ( Prior, C; Puig, JG; Torres, RJ, 2007)

Research

Studies (19)

TimeframeStudies, this research(%)All Research%
pre-19905 (26.32)18.7374
1990's6 (31.58)18.2507
2000's2 (10.53)29.6817
2010's4 (21.05)24.3611
2020's2 (10.53)2.80

Authors

AuthorsStudies
Dutto, I1
Gerhards, J1
Herrera, A1
Souckova, O1
Škopová, V1
Smak, JA1
Junza, A1
Yanes, O1
Boeckx, C1
Burkhalter, MD1
Zikánová, M1
Pons, S1
Philipp, M1
Lüders, J1
Stracker, TH1
Grunebaum, E1
Campbell, N1
Leon-Ponte, M1
Xu, X1
Chapdelaine, H1
Boitz, JM1
Strasser, R1
Yates, PA1
Jardim, A1
Ullman, B1
Sebesta, I1
Stiburkova, B1
Torres, RJ2
Peters, GJ1
Puig, JG2
Morisaki, T1
ENGELMAN, K1
WATTS, RW1
KLINENBERG, JR1
SJOERDSMA, A1
SEEGMILLER, JE1
AYVAZIAN, JH1
SKUPP, S1
Prior, C1
Gutensohn, W1
Iwahana, H1
Itakura, M1
Duran, M1
Dorland, L1
Meuleman, EE1
Allers, P1
Berger, R1
Simmonds, HA1
Duley, JA1
Fairbanks, LD1
McBride, MB1
Sumi, S1
Wada, Y1
Ichida, K1
Hosoya, T1
Wolff, JA1
Friedmann, T1

Reviews

7 reviews available for purine and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
[Animal models for abnormal purine metabolism].
    Nihon rinsho. Japanese journal of clinical medicine, 2003, Volume: 61 Suppl 1

    Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; AMP Deaminase; Animals; Disease Models, Anim

2003
[Inherited disorders of uric acid metabolism--classification, enzymatic- and DNA-diagnosis].
    Nihon rinsho. Japanese journal of clinical medicine, 1996, Volume: 54, Issue:12

    Topics: Adenosine Triphosphate; DNA; Humans; Hypoxanthine Phosphoribosyltransferase; Molecular Probe Techniq

1996
Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis.
    Journal of inherited metabolic disease, 1997, Volume: 20, Issue:2

    Topics: Animals; Artifacts; Chromatography; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Py

1997
When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.
    Journal of inherited metabolic disease, 1997, Volume: 20, Issue:2

    Topics: Biomarkers; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines

1997
[Purine nucleoside phosphorylase (PNP) deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Humans; Immunity, Cellular; Mutation; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism,

1998
[Classical xanthinuria (type I and II)].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Aldehyde Oxidase; Aldehyde Oxidoreductases; Coenzymes; Diagnosis, Differential; Humans; Metalloprote

1998
Approaches to gene therapy in disorders of purine metabolism.
    Rheumatic diseases clinics of North America, 1988, Volume: 14, Issue:2

    Topics: Adenosine Deaminase; Animals; Bone Marrow Transplantation; DNA, Viral; Genetic Therapy; Humans; Hypo

1988

Other Studies

12 other studies available for purine and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
Pathway-specific effects of ADSL deficiency on neurodevelopment.
    eLife, 2022, 02-08, Volume: 11

    Topics: Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Animals; Autism Spectrum Disorder; Autistic Diso

2022
Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.
    Frontiers in immunology, 2020, Volume: 11

    Topics: Adult; Alleles; DNA Mutational Analysis; Enzyme Activation; Female; Genotype; Humans; Immunophenotyp

2020
Adenylosuccinate synthetase and adenylosuccinate lyase deficiencies trigger growth and infectivity deficits in Leishmania donovani.
    The Journal of biological chemistry, 2013, Mar-29, Volume: 288, Issue:13

    Topics: Adenylosuccinate Lyase; Adenylosuccinate Synthase; Animals; Autistic Disorder; Cloning, Molecular; D

2013
Purine disorders with hypouricemia.
    Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki), 2014, Volume: 35, Issue:1

    Topics: Adolescent; Adult; Child; Female; Genetic Predisposition to Disease; Humans; Male; Purine-Pyrimidine

2014
Proceedings of the 15th International Symposium on Purine and Pyrimidine Metabolism in Man, June 9-13, 2013, Madrid, Spain.
    Nucleosides, nucleotides & nucleic acids, 2014, Volume: 33, Issue:4-6

    Topics: Animals; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines

2014
Novel developments in metabolic disorders of purine and pyrimidine metabolism and therapeutic applications of their analogs.
    Nucleosides, nucleotides & nucleic acids, 2014, Volume: 33, Issue:4-6

    Topics: Awards and Prizes; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines

2014
CLINICAL, PHYSIOLOGICAL AND BIOCHEMICAL STUDIES OF A PATIENT WITH XANTHINURIA AND PHEOCHROMOCYTOMA.
    The American journal of medicine, 1964, Volume: 37

    Topics: Blood; Blood Group Antigens; Carbon Isotopes; Catecholamines; Electrophoresis; Humans; Jejunum; Kidn

1964
THE STUDY OF PURINE UTILIZATION AND EXCRETION IN A XANTHINURIC MAN.
    The Journal of clinical investigation, 1965, Volume: 44

    Topics: Adenine; Carbon Isotopes; Chromatography; Guanine; Humans; Hypoxanthines; Male; Metabolism, Inborn E

1965
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Metabolism: clinical and experimental, 2007, Volume: 56, Issue:9

    Topics: Adolescent; Adult; Allopurinol; Antimetabolites; Child; Child, Preschool; Dose-Response Relationship

2007
Inherited disorders of purine metabolism--underlying molecular mechanisms.
    Klinische Wochenschrift, 1984, Oct-15, Volume: 62, Issue:20

    Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; Gout; Humans; Hypoxanthine Phosphoribosyltra

1984
Proceedings of the joint 9th International/6th European Symposium on Purine and Pyrimidine Metabolism in Man. Gmunden, Austria, June 1-7, 1997.
    Advances in experimental medicine and biology, 1998, Volume: 431

    Topics: Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines

1998
Purine and pyrimidine metabolism in man V. Part A: Clinical aspects including molecular genetics. Festschrift for J.E. Seegmiller.
    Advances in experimental medicine and biology, 1986, Volume: 195 Pt A

    Topics: Biochemistry; History, 20th Century; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; P

1986