phosphoribosyl pyrophosphate and Lesch-Nyhan Syndrome

phosphoribosyl pyrophosphate has been researched along with Lesch-Nyhan Syndrome in 33 studies

Research

Studies (33)

Timeframe	Studies, this research(%)	All Research%
pre-1990	26 (78.79)	18.7374
1990's	2 (6.06)	18.2507
2000's	4 (12.12)	29.6817
2010's	1 (3.03)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Hasegawa, H; Himeno, T; Ichida, K; Ishikawa, K; Miyazawa, M; Nakahara, A; Nakamura, M; Namiki, O; Nozaki, S; Oh, K; Shinohara, Y; Suzuki, K; Ueda, T; Yamada, Y; Yoshida, S	1
Bromberg, Y; Feinstein, S; Frishberg, Y; Hirsch, J; Sperling, O; Zoref-Shani, E	2
Yamada, Y	1
Mitev, VI; Neychev, VK	1
Allsop, J; Watts, RW	2
Arnold, WN; Edwards, NL; Fox, IH; Gelfand, E; Kaminska, J; Rich, KC	1
Bieth, R; Warter, S	1
Fattal, A; Sperling, O; Spirer, Z; Zoref-Shani, E	1
Anderson, PJ; Chang, HC; Esty, AC; Friedmann, T; Jolly, DJ; Jones, OW; Miller, AD; Plent, MM; Seegmiller, JE; Willis, RC	1
Gutensohn, W	1
Cascante, M; Curto, R; Sorribas, A; Voit, EO	1
Blinov, MN; Filanovskaia, LI; Filippova, VN	1
Mertz, DP	1
Reem, GH	2
Balis, ME	1
Benke, PJ; Dittmar, D	1
Gupta, KC; Pipkorn, J; Taylor, MW; Tokito, MK	1
Aleksandrova, LA; Shaposhnikov, AM	1
Astrin, K; Brenton, D; Cruikshank, M; Lever, J; Nuki, G; Seegmiller, JE	2
Nyhan, WL	1
Allison, AC; Hovi, T; Watts, RW; Webster, AD	1
Bakay, B; Becker, MA; Borden, M; Lesh, P; Sweetman, L	1
Seegmiller, JE	1
Ammann, AJ; Cohen, A; Doyle, D; Martin, DW	1
Becker, MA	2
Akaoka, I; Fujimori, S; Kamatani, N; Tagaya, T	1
Watts, RW	1

Reviews

8 review(s) available for phosphoribosyl pyrophosphate and Lesch-Nyhan Syndrome

Article	Year
[Hypoxanthine guanine phosphoribosyltransferase (HPRT)]. Nihon rinsho. Japanese journal of clinical medicine, 2003, Volume: 61 Suppl 1 Topics: Animals; DNA; DNA Methylation; Gene Expression Regulation, Enzymologic; Gene Silencing; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Phosphoribosyl Pyrophosphate; Promoter Regions, Genetic; Purine Nucleotides; RNA, Messenger; X Chromosome	2003
[Nucleotide synthesis in the erythrocytes in certain forms of anemia (a review of the literature)]. Problemy gematologii i perelivaniia krovi, 1977, Volume: 22, Issue:3 Topics: Adenine Nucleotides; Anemia; Anemia, Hemolytic; Cell Nucleus; Energy Metabolism; Erythrocyte Membrane; Erythrocytes; Hemoglobinuria, Paroxysmal; Humans; Inosine Nucleotides; Lesch-Nyhan Syndrome; Male; NAD; NADP; Nucleic Acid Precursors; Nucleotides; Phosphoribosyl Pyrophosphate	1977
[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
Purine biosynthesis in mutant mammalian cells. Ciba Foundation symposium, 1977, Issue:48 Topics: Adenosine; Amidophosphoribosyltransferase; Amino Sugars; Animals; Cells, Cultured; Cricetinae; Dimethyl Sulfoxide; Fibroblasts; Formates; Glutamine; Glycine; Humans; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Inosine; Lesch-Nyhan Syndrome; Leukemia, Erythroblastic, Acute; Lung; Lymphocytes; Mutation; Phosphoribosyl Pyrophosphate; Purines; Ribose-Phosphate Pyrophosphokinase; Ribosemonophosphates	1977
The role of de novo purine synthesis in lymphocyte transformation. Ciba Foundation symposium, 1977, Issue:48 Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; Adolescent; Adult; Allopurinol; Azaserine; B-Lymphocytes; Child; Child, Preschool; Humans; Hypoxanthine Phosphoribosyltransferase; Immunoglobulins; Lectins; Lesch-Nyhan Syndrome; Lymphocyte Activation; Male; Mercaptopurine; Mitogens; Phosphoribosyl Pyrophosphate; Purine-Nucleoside Phosphorylase; Purines; RNA; T-Lymphocytes; Thymidine; Uridine	1977
Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants). Advances in human genetics, 1976, Volume: 6 Topics: Adolescent; Adult; Anemia, Megaloblastic; Child; Child, Preschool; Chromosome Mapping; Erythrocytes; Genes; Genetic Linkage; Humans; Hypoxanthine Phosphoribosyltransferase; Infant; Infant, Newborn; Lesch-Nyhan Syndrome; Male; Mutation; Pedigree; Phenotype; Phosphoribosyl Pyrophosphate; Prenatal Diagnosis; Self Mutilation; Sex Chromosomes; Uric Acid	1976
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

25 other study(ies) available for phosphoribosyl pyrophosphate and Lesch-Nyhan Syndrome

Article	Year
Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2015, Jan-22, Volume: 976-977 Topics: Chromatography, Liquid; Erythrocytes; Humans; Lesch-Nyhan Syndrome; Male; Phosphoribosyl Pyrophosphate; Tandem Mass Spectrometry	2015
A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome. Molecular genetics and metabolism, 2003, Volume: 78, Issue:2 Topics: Amino Acid Motifs; Amino Acid Sequence; Base Sequence; Binding Sites; Child, Preschool; DNA Primers; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Male; Models, Molecular; Phosphoribosyl Pyrophosphate; Point Mutation; Pregnancy	2003
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis. Medical hypotheses, 2004, Volume: 63, Issue:1 Topics: Animals; Biochemistry; Brain; Humans; Hypoxanthine Phosphoribosyltransferase; Intellectual Disability; Lesch-Nyhan Syndrome; Mental Disorders; Models, Biological; Movement Disorders; Neurons; Phosphoribosyl Pyrophosphate; Self Mutilation; Uric Acid	2004
Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem. Nucleosides, nucleotides & nucleic acids, 2004, Volume: 23, Issue:8-9 Topics: Binding Sites; Child, Preschool; Codon; DNA, Complementary; Erythrocytes; Fibroblasts; Humans; Hypoxanthine Phosphoribosyltransferase; Isoleucine; Lesch-Nyhan Syndrome; Male; Mutation; Phosphoribosyl Pyrophosphate; Point Mutation; Threonine	2004
Activities of amidophosphoribosyltransferase (EC2.4.2.14) and the purine phosphoribosyltransferases (EC2.4.2.7 and 2.4.2.8), and the phosphoribosylpyrophosphate content of rat central nervous system at different stages of development--their possible relat Journal of the neurological sciences, 1980, Volume: 46, Issue:2 Topics: Adenine Phosphoribosyltransferase; Age Factors; Amidophosphoribosyltransferase; Animals; Brain; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Male; Neuroglia; Neurons; Pentosephosphates; Pentosyltransferases; Phosphoribosyl Pyrophosphate; Rats	1980
Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency. Biochemical genetics, 1980, Volume: 18, Issue:3-4 Topics: Child; Child, Preschool; Deoxyribonucleosides; Erythrocytes; Humans; Hypoxanthine Phosphoribosyltransferase; Immunologic Deficiency Syndromes; Lesch-Nyhan Syndrome; Male; Pentosyltransferases; Phosphoribosyl Pyrophosphate; Purine-Nucleoside Phosphorylase; Purines; Pyrimidines	1980
[A new form of the Lesch-Nyhan syndrome. A study of hypoxanthine-guanine-phosphoribosyl-transferase in fibroblasts. The in vitro and in vivo effect of adenine on enzyme activity]. Annales de biologie clinique, 1982, Volume: 40, Issue:5 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Erythrocytes; Fibroblasts; Humans; Hydrogen-Ion Concentration; Hypoxanthine Phosphoribosyltransferase; Infant; Kinetics; Lesch-Nyhan Syndrome; Male; Phosphoribosyl Pyrophosphate; Ribose-Phosphate Pyrophosphokinase; Temperature	1982
Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation. Enzyme, 1984, Volume: 31, Issue:1 Topics: Adult; Child, Preschool; Female; Fibroblasts; Heterozygote; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Kinetics; Lesch-Nyhan Syndrome; Male; Pentosephosphates; Phosphoribosyl Pyrophosphate	1984
Partial phenotypic correction of human Lesch-Nyhan (hypoxanthine-guanine phosphoribosyltransferase-deficient) lymphoblasts with a transmissible retroviral vector. The Journal of biological chemistry, 1984, Jun-25, Volume: 259, Issue:12 Topics: Animals; B-Lymphocytes; DNA; Gout; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Male; Mice; Phenotype; Phosphoribosyl Pyrophosphate; Purines; Repetitive Sequences, Nucleic Acid; Retroviridae; Thioguanine; Transcription, Genetic; Transfection	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
Mathematical models of purine metabolism in man. Mathematical biosciences, 1998, Volume: 151, Issue:1 Topics: Animals; Computer Simulation; Humans; Hypoxanthine Phosphoribosyltransferase; Kinetics; Lesch-Nyhan Syndrome; Models, Biological; Phosphoribosyl Pyrophosphate; Purines	1998
Phosphoribosylpyrophosphate overproduction, a new metabolic abnormality in the Lesch Nyhan syndrome. Science (New York, N.Y.), 1975, Dec-12, Volume: 190, Issue:4219 Topics: Cell Line; Cells, Cultured; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Pentosephosphates; Phosphoribosyl Pyrophosphate; Phosphotransferases; Ribose-Phosphate Pyrophosphokinase	1975
Phosphoribosylpyrophosphate (PRPP) amidotransferase (EC 2.4.2.14) activity in unstimulated and stimulated human lymphocytes. Advances in experimental medicine and biology, 1977, Volume: 76A Topics: Amidophosphoribosyltransferase; Granulocytes; Humans; Hypoxanthine Phosphoribosyltransferase; Lectins; Lesch-Nyhan Syndrome; Lymphocyte Activation; Lymphocytes; Pentosyltransferases; Phosphoribosyl Pyrophosphate; Ribose-Phosphate Pyrophosphokinase	1977
Phosphoribosylpyrophosphate synthesis in cultured human cells. Science (New York, N.Y.), 1977, Dec-16, Volume: 198, Issue:4322 Topics: Aminopterin; Cells, Cultured; Cycloheximide; Homeostasis; Humans; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Kinetics; Lesch-Nyhan Syndrome; Mutation; Pentosephosphates; Phosphoribosyl Pyrophosphate; Phosphotransferases; Ribose-Phosphate Pyrophosphokinase	1977
Regulation of de novo purine biosynthesis in normal and 8-azaguanine-resistant Chinese hamster cells. Biochimica et biophysica acta, 1978, Jan-26, Volume: 517, Issue:1 Topics: Azaguanine; Cell Line; Feedback; Glutamine; Glycine; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Phosphoribosyl Pyrophosphate; Purines; Ribose-Phosphate Pyrophosphokinase	1978
[Clinical and biochemical heterogeneity of the Lesch-Nyhan syndrome]. Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1979, Volume: 79, Issue:10 Topics: Adenine Phosphoribosyltransferase; Adolescent; Ceruloplasmin; Child; Child, Preschool; Electron Transport Complex IV; Erythrocytes; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Leukocytes; Male; Phosphoribosyl Pyrophosphate; Ribose-Phosphate Pyrophosphokinase; Synovial Fluid; Uric Acid	1979
Purine and pyrimidine nucleotides in some mutant human lymphoblasts. Ciba Foundation symposium, 1977, Issue:48 Topics: Adenine Nucleotides; Bicarbonates; Guanine Nucleotides; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Lymphocytes; Male; Mutation; Orotic Acid; Phosphates; Phosphoribosyl Pyrophosphate; Purine Nucleotides; Pyrimidine Nucleotides	1977
Purine and pyrimidine metabolism. Ciba Foundation symposium, 1977, Issue:48 Topics: Adenosine; Adenosine Triphosphate; Allopurinol; Animals; Ascorbic Acid; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Methylene Blue; Phosphoribosyl Pyrophosphate; Purines; Pyrimidines; Ribosemonophosphates; Uric Acid	1977
Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase. Ciba Foundation symposium, 1977, Issue:48 Topics: 5-Hydroxytryptophan; Erythrocytes; Guanine; Humans; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Inosine Monophosphate; Isoenzymes; Kinetics; Lesch-Nyhan Syndrome; Male; Phosphoribosyl Pyrophosphate	1977
Diminished affinity for purine substrates as a basis for gout with mild deficiency of hypoxanthine-guanine phosphoribosyltransferase. Advances in experimental medicine and biology, 1977, Volume: 76A Topics: Azaguanine; Binding Sites; Drug Resistance; Erythrocytes; Fibroblasts; Gout; Guanine; Heterozygote; Humans; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Kinetics; Lesch-Nyhan Syndrome; Phosphoribosyl Pyrophosphate	1977
Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. The New England journal of medicine, 1976, Dec-23, Volume: 295, Issue:26 Topics: Child; Erythrocytes; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Immunologic Deficiency Syndromes; Inosine; Lesch-Nyhan Syndrome; Male; Pentosyltransferases; Phosphoribosyl Pyrophosphate; Purine Nucleosides; Purine Nucleotides; Purine-Nucleoside Phosphorylase; Purines; Uric Acid	1976
Purine and pyrimidine nucleotide concentrations in cells with decreased hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) activity. Advances in experimental medicine and biology, 1977, Volume: 76A Topics: Cell Line; Erythrocytes; Fibroblasts; Gout; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Lymphocytes; Mutation; Phosphates; Phosphoribosyl Pyrophosphate; Purine Nucleotides; Purines; Pyrimidine Nucleotides	1977
Effects of inosine on purine synthesis in normal and HGPRT-deficient human fibroblasts. Advances in experimental medicine and biology, 1977, Volume: 76A Topics: Cells, Cultured; Fibroblasts; Humans; Hypoxanthine Phosphoribosyltransferase; Inosine; Lesch-Nyhan Syndrome; Methylene Blue; Mutation; Pentosephosphates; Phosphoribosyl Pyrophosphate; Purine Nucleotides; Purines; Ribosemonophosphates	1977
Regulation of purine nucleotide synthesis. Effects of inosine on normal and hypoxantine-guanine phosphoribosyltransferase-deficient fibroblasts. Biochimica et biophysica acta, 1976, Jun-18, Volume: 435, Issue:2 Topics: Adult; Child; Fibroblasts; Glucose; Humans; Hypoxanthine Phosphoribosyltransferase; Inosine; Kinetics; Lesch-Nyhan Syndrome; Methylene Blue; Phosphoribosyl Pyrophosphate; Skin	1976
A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region pro Human genetics, 1992, Volume: 90, Issue:4 Topics: Amino Acid Sequence; Base Sequence; Binding Sites; Blotting, Western; Cell Line; DNA, Single-Stranded; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Japan; Lesch-Nyhan Syndrome; Male; Molecular Sequence Data; Mutation; Phosphoribosyl Pyrophosphate; Polymerase Chain Reaction; Sequence Homology, Amino Acid	1992