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phosphoribosyl pyrophosphate and Purine Pyrimidine Metabolism, Inborn Errors

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

Research

Studies (19)

TimeframeStudies, this research(%)All Research%
pre-199015 (78.95)18.7374
1990's4 (21.05)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Adams, WB; Bakay, B; Becker, MA; Nyhan, WL; Raivio, KO1
Fairbanks, LD; Potter, CF; Simmonds, HA; Webster, DR; Wilson, J1
Gutensohn, W1
Itakura, M; Iwahana, H1
Fujimori, S1
Kamatani, N; Totokawa, S1
Imaeda, H; Wada, Y1
Mertz, DP1
Becker, MA1
Balis, ME1
Wyngaarden, JB1
Gröbner, W; Zöllner, N1
Tachibana, M1
Becker, MA; Losman, MJ; Simmonds, HA; Wilson, J1
Fairbanks, LD; Simmonds, HA; Webster, DR2
Emmerson, BT; Gordon, RB1
Becker, MA; Jimenez, ML; Kim, M; Mateos, FA; Puig, JG; Simmonds, HA1
Watts, RW1

Reviews

9 review(s) available for phosphoribosyl pyrophosphate and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
[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 Techniques; Nucleic Acid Hybridization; Phosphoribosyl Pyrophosphate; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribose-Phosphate Pyrophosphokinase; Uric Acid; Xanthine Oxidase

1996
[PRPP synthetase superactivity].
    Nihon rinsho. Japanese journal of clinical medicine, 1996, Volume: 54, Issue:12

    Topics: Gout; Humans; Phosphoribosyl Pyrophosphate; Proteins; Purine Nucleotides; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase; Uric Acid; X Chromosome

1996
[5-Phosphoribosyl-1-pyrophosphate synthetase overexpression].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Diagnosis, Differential; Humans; Mutation; Phosphoribosyl Pyrophosphate; Prognosis; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase

1998
[PRPP synthetase deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Diagnosis, Differential; Humans; Phosphoribosyl Pyrophosphate; Prognosis; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase

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
Uric acid metabolism in man.
    Advances in clinical chemistry, 1976, Volume: 18

    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
Regulation of purine biosynthesis and turnover.
    Advances in enzyme regulation, 1976, Volume: 14

    Topics: Amidophosphoribosyltransferase; Ammonia; Animals; Glutamine; Humans; Inosine Nucleotides; Liver; Molecular Weight; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribonucleotides; Ribose-Phosphate Pyrophosphokinase; Ribosemonophosphates

1976
[Disorders of human pyrimidine metabolism (author's transl)].
    MMW, Munchener medizinische Wochenschrift, 1975, Volume: 117, Issue:37

    Topics: Allopurinol; Azauridine; Chemical Phenomena; Chemistry; Cytidine; Folic Acid; Humans; Infant; Male; Ornithine Carbamoyltransferase; Orotic Acid; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidine Nucleotides; Pyrimidines; Uridine

1975
Molecular variation in relation to purine metabolism.
    Journal of clinical pathology. Supplement (Royal College of Pathologists), 1974, Volume: 8

    Topics: Amidophosphoribosyltransferase; Chemical Phenomena; Chemistry; Glucosephosphate Dehydrogenase Deficiency; Glutathione Reductase; Gout; Humans; Inosine Monophosphate; Lesch-Nyhan Syndrome; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Uric Acid; Xanthine Oxidase; Xanthines; Xeroderma Pigmentosum

1974

Other Studies

10 other study(ies) available for phosphoribosyl pyrophosphate and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
Superactive phosphoribosylpyrophosphate synthetase with altered regulatory and catalytic properties.
    Advances in experimental medicine and biology, 1980, Volume: 122A

    Topics: Adolescent; Erythrocytes; Fibroblasts; Humans; Hypoxanthine Phosphoribosyltransferase; Kinetics; Male; Phosphoribosyl Pyrophosphate; Phosphotransferases; Purine Nucleotides; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase

1980
Evidence of a new syndrome involving hereditary uric acid over-production, neurological complications and deafness.
    Advances in experimental medicine and biology, 1984, Volume: 165 Pt A

    Topics: Clinical Laboratory Techniques; Deafness; Erythrocytes; Female; Humans; Infant, Newborn; Kinetics; Male; Nervous System Diseases; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; Syndrome; Uric Acid

1984
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 Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Molecular Biology; Mutation; Phosphoribosyl Pyrophosphate; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Ribose-Phosphate Pyrophosphokinase; Uric Acid

1984
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.
    The Journal of clinical investigation, 1976, Volume: 57, Issue:2

    Topics: Adenine Phosphoribosyltransferase; Adolescent; Adult; Cells, Cultured; Erythrocytes; Female; Fibroblasts; Glycine; Gout; Humans; Hypoxanthine Phosphoribosyltransferase; Middle Aged; Pentosephosphates; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase; Ribosemonophosphates; Uric Acid

1976
[Regulations and abnormalities of nucleic acid base metabolism].
    Horumon to rinsho. Clinical endocrinology, 1975, Volume: 23, Issue:9

    Topics: Animals; Humans; Mice; Nucleotides; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors

1975
Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.
    Biochimica et biophysica acta, 1986, Jun-19, Volume: 882, Issue:2

    Topics: Cells, Cultured; Enzyme Activation; Humans; Kinetics; Pedigree; Phosphates; Phosphoribosyl Pyrophosphate; Phosphotransferases; Purine Nucleotides; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase; X Chromosome

1986
Usefulness of intact erythrocyte studies in the diagnosis of inherited purine and pyrimidine defects.
    Advances in experimental medicine and biology, 1986, Volume: 195 Pt A

    Topics: Adenine; Carbon Radioisotopes; Chromatography, High Pressure Liquid; Deoxyadenosines; Erythrocytes; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Orotic Acid; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Radioisotope Dilution Technique

1986
HGPRT deficiency with normal erythrocyte PRPP and APRT activity.
    Advances in experimental medicine and biology, 1986, Volume: 195 Pt A

    Topics: Adenine Phosphoribosyltransferase; Child; Erythrocytes; Humans; Hypoxanthine Phosphoribosyltransferase; Male; Pentosephosphates; Pentosyltransferases; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values

1986
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:2

    Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; Adolescent; Adult; Child; Child, Preschool; Erythrocytes; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Infant; Male; Pentosephosphates; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors

1987
Neurodevelopmental impairment and deranged PRPP and purine nucleotide synthesis in inherited superactivity of PRPP synthetase.
    Advances in experimental medicine and biology, 1989, Volume: 253A

    Topics: Adult; Cells, Cultured; Child; Deafness; Enzyme Activation; Female; Fibroblasts; Gout; Humans; Kinetics; Male; Pedigree; Pentosephosphates; Phosphoribosyl Pyrophosphate; Phosphotransferases; Purine Nucleotides; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase

1989