adenine has been researched along with Choreoathetosis Self-Mutilation Hyperuricemia Syndrome in 71 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "A rat neuroma cell line (B103 4C), deficient of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), was utilized as a model tissue in search for the biochemical basis of the Lesch-Nyhan syndrome (LNS)." | 7.68 | Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line. ( Bromberg, Y; Brosh, S; Sidi, Y; Sperling, O; Zoref-Shani, E, 1993) |
| "The inherited disease Lesch-Nyhan syndrome, which is caused by a deficiency of the enzyme hypoxanthine phosphoribosyltransferase (HPRT), is characterized by behavioural alterations, including self-injurious behaviour and mental retardation." | 7.68 | Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. ( Melton, DW; Wu, CL, 1993) |
| "In a 7-year-old patient with Lesch-Nyhan syndrome (LNS) the 15N excess frequency was determined in the excreted uric acid after oral application of 27 mg 15N glycine/kg body weight, using emission spectrometry." | 7.67 | Adenine therapy in Lesch-Nyhan syndrome. ( Bührdel, P; Hirschberg, K; Krüger, W; Wehnert, M, 1985) |
| "We have studied three patients with the Lesch-Nyhan syndrome to assess the effect of dietary purines on erythrocyte hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity." | 7.65 | Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome. ( Arnold, WJ; Kelley, WN, 1973) |
| "It has been reported that 9-ethyladenine (9-EA) is an efficient inhibitor of APRT (adenine phosphoribosyltransferase) and that its administration causes self-injurious behavior (Lesch-Nyhan Syndrome-like symptoms) in HPRT (hypoxanthine-guanine phosphoribosyltransferase)-deficient mice." | 3.70 | No self-injurious behavior was found in HPRT-deficient mice treated with 9-ethyladenine. ( Edamura, K; Sasai, H, 1998) |
| "The Lesch-Nyhan syndrome is an X-linked disorder caused by a virtually complete absence of the key enzyme of purine recycling, hypoxanthine-guanine phosphoribosyltransferase (HPRT)." | 3.70 | Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium. ( Bain, D; Castro, MG; Fairbanks, LD; Larregina, AT; Löwenstein, PR; Morelli, AE; Simmonds, HA; Southgate, TD, 1999) |
| " Lesch-Nyhan syndrome is a severe neurological disorder, caused by a deficiency in the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT)." | 3.69 | Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. ( Melton, DW; Redhead, NJ; Selfridge, J; Wu, CL, 1996) |
| "A rat neuroma cell line (B103 4C), deficient of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), was utilized as a model tissue in search for the biochemical basis of the Lesch-Nyhan syndrome (LNS)." | 3.68 | Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line. ( Bromberg, Y; Brosh, S; Sidi, Y; Sperling, O; Zoref-Shani, E, 1993) |
| "The inherited disease Lesch-Nyhan syndrome, which is caused by a deficiency of the enzyme hypoxanthine phosphoribosyltransferase (HPRT), is characterized by behavioural alterations, including self-injurious behaviour and mental retardation." | 3.68 | Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. ( Melton, DW; Wu, CL, 1993) |
| "In a 7-year-old patient with Lesch-Nyhan syndrome (LNS) the 15N excess frequency was determined in the excreted uric acid after oral application of 27 mg 15N glycine/kg body weight, using emission spectrometry." | 3.67 | Adenine therapy in Lesch-Nyhan syndrome. ( Bührdel, P; Hirschberg, K; Krüger, W; Wehnert, M, 1985) |
| "The contribution of reduced purine salvage to the hyperuricemia associated with hypoxanthine-guanine phosphoribosyltransferase deficiency was measured by the intravenous administration of tracer doses of [8-(14)C]adenine to nine patients with normal enzyme activity, three patients with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase, and six patients with the Lesch-Nyhan syndrome." | 3.66 | Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage. ( Edwards, NL; Fox, IH; Recker, D, 1979) |
| "We have studied three patients with the Lesch-Nyhan syndrome to assess the effect of dietary purines on erythrocyte hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity." | 3.65 | Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome. ( Arnold, WJ; Kelley, WN, 1973) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 65 (91.55) | 18.7374 |
| 1990's | 6 (8.45) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Warter, S | 1 |
| Bieth, R | 1 |
| Edwards, NL | 2 |
| Recker, DP | 1 |
| Fox, IH | 3 |
| Zoref-Shani, E | 1 |
| Bromberg, Y | 1 |
| Brosh, S | 1 |
| Sidi, Y | 1 |
| Sperling, O | 4 |
| Wu, CL | 2 |
| Melton, DW | 2 |
| Redhead, NJ | 1 |
| Selfridge, J | 1 |
| Ogasawara, N | 1 |
| Edamura, K | 1 |
| Sasai, H | 1 |
| Southgate, TD | 1 |
| Bain, D | 1 |
| Fairbanks, LD | 1 |
| Morelli, AE | 1 |
| Larregina, AT | 1 |
| Simmonds, HA | 2 |
| Castro, MG | 1 |
| Löwenstein, PR | 1 |
| Seegmiller, JE | 7 |
| Watanabe, T | 1 |
| Shreier, MH | 1 |
| Waldmann, TA | 1 |
| McKeran, RO | 2 |
| Müller, MM | 4 |
| Kraupp, M | 2 |
| de Bruyn, CH | 4 |
| Recker, D | 1 |
| Bakay, B | 6 |
| Nissinen, E | 1 |
| Sweetman, L | 3 |
| Francke, U | 3 |
| Nyhan, WL | 8 |
| Falkner, G | 1 |
| Lowy, BA | 1 |
| Williams, MK | 1 |
| Rivard, GE | 1 |
| McLaren, JD | 1 |
| Brunst, RF | 1 |
| Pollara, B | 1 |
| Moore, JJ | 1 |
| Pickering, RJ | 1 |
| Gabrielsen, AE | 1 |
| Meuwissen, HJ | 1 |
| Willers, I | 1 |
| Agarwal, DP | 1 |
| Singh, S | 1 |
| Schloot, W | 1 |
| Goedde, HW | 1 |
| Künzer, W | 1 |
| Davidson, BL | 1 |
| Palella, TD | 1 |
| Kelley, WN | 5 |
| Goday, A | 1 |
| Webster, DR | 1 |
| Morris, GS | 1 |
| Takeuchi, F | 1 |
| Matsuta, K | 1 |
| Miyamoto, T | 1 |
| Enomoto, S | 1 |
| Fujimori, S | 1 |
| Akaoka, I | 1 |
| Kamatani, N | 1 |
| Nishioka, K | 1 |
| Bührdel, P | 1 |
| Krüger, W | 1 |
| Hirschberg, K | 1 |
| Wehnert, M | 1 |
| Yip, LC | 2 |
| Dancis, J | 3 |
| Balis, ME | 3 |
| Boyle, JA | 3 |
| Green, ML | 1 |
| Raivio, KO | 3 |
| Becker, MA | 3 |
| Wood, S | 2 |
| Pinsky, L | 2 |
| Beardmore, TD | 1 |
| Meade, JC | 1 |
| Borden, M | 1 |
| Gordon, RB | 2 |
| Thompson, L | 2 |
| Emmerson, BT | 2 |
| Cox, RP | 2 |
| Krauss, MR | 2 |
| Jansen, V | 1 |
| Watts, RW | 1 |
| Brown, E | 1 |
| Andrews, TM | 1 |
| Griffiths, MI | 1 |
| Wood, MH | 2 |
| Fox, RM | 2 |
| Vincent, L | 1 |
| Reye, C | 1 |
| O'Sullivan, WJ | 2 |
| Wood, AW | 1 |
| Minna, JD | 1 |
| Itiaba, K | 1 |
| Banfalvi, M | 1 |
| Crawhall, JC | 1 |
| DeMars, R | 1 |
| Held, KR | 1 |
| Kaiser, WP | 1 |
| Stemberger, H | 1 |
| Arnold, WJ | 2 |
| Demus, A | 1 |
| Kaiser, W | 1 |
| Schaub, J | 1 |
| Seegmiller, E | 1 |
| Benke, PJ | 2 |
| Herrick, N | 2 |
| Smitten, L | 1 |
| Aradine, C | 1 |
| Laessig, R | 1 |
| Wolcott, GJ | 1 |
| Oei, TL | 2 |
| Geerdink, RA | 1 |
| Lommen, EJ | 2 |
| Henderson, JF | 1 |
| McCoy, EE | 1 |
| Fraser, JH | 1 |
| Bashkin, P | 1 |
| Schmidt, R | 1 |
| Szeinberg, A | 1 |
| Reem, GH | 1 |
| Amor, TB | 1 |
| Delbarre, F | 2 |
| Auscher, C | 2 |
| de Gery, A | 1 |
| Zoref, E | 2 |
| De Vries, A | 2 |
| Mercier, N | 1 |
| Pasquier, C | 1 |
| Ceccarelli, M | 1 |
| Ciompi, ML | 2 |
| Pasero, G | 2 |
| Nissim, S | 1 |
| Barzan, L | 1 |
| Connor, JD | 1 |
| Coldwell, JG | 1 |
| ter Haar, BG | 1 |
| Fawcett, N | 1 |
| Kogut, MD | 1 |
| Vogels, GD | 1 |
| van der Zee, SP | 1 |
| Trijbels, JM | 1 |
| Schretlen, ED | 1 |
| Greene, ML | 1 |
| Goldstein, JL | 1 |
| Marks, JF | 1 |
| Gartler, SM | 1 |
4 reviews available for adenine and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
| Article | Year |
|---|---|
[Complete and partial deficiency of HPRT].
Topics: Adenine; Animals; DNA; Genetic Therapy; Heterozygote; Humans; Hypoxanthine Phosphoribosyltransferase | 1996 |
Immunological aspects of purine metabolism.
Topics: Adenine; Adenosine; Adenosine Deaminase; Antibody Formation; Hormones; Humans; Immunity, Cellular; I | 1977 |
Phosphoribosylpyrophosphate in man: biochemical and clinical significance.
Topics: Adenine; Adrenocorticotropic Hormone; Allopurinol; Animals; Glycogen; Gout; Humans; Lesch-Nyhan Synd | 1971 |
Genetic aspects of gout.
Topics: Adenine; Allopurinol; Carbon Radioisotopes; Erythrocytes; Fibroblasts; Glucosephosphate Dehydrogenas | 1974 |
67 other studies available for adenine and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
| Article | Year |
|---|---|
[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].
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Erythrocytes; Fibroblasts; Humans; Hydrogen-Ion C | 1982 |
Hypoxanthine salvage in man: its importance in urate overproduction in the Lesch-Nyhan syndrome.
Topics: Adenine; Fructose; Humans; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Kinetics; Lesch-Ny | 1980 |
Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line.
Topics: Adenine; Adenine Nucleotides; Animals; Formates; Guanine; Hypoxanthine; Hypoxanthine Phosphoribosylt | 1993 |
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
Topics: Adenine; Adenine Phosphoribosyltransferase; Animals; Brain; Caffeine; Cell Division; Cells, Cultured | 1993 |
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Allopurinol; Animals; Blotting, Southern; Chrom | 1996 |
No self-injurious behavior was found in HPRT-deficient mice treated with 9-ethyladenine.
Topics: Adenine; Animals; Cell Extracts; Disease Models, Animal; Hypoxanthine Phosphoribosyltransferase; Les | 1998 |
Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium.
Topics: Adenine; Adenoviridae; Animals; Carbon Radioisotopes; Cell Survival; Cells, Cultured; Culture Media; | 1999 |
Factors in the pathogenesis of the brain damage and anaemia in the Lesch-Nyhan syndrome.
Topics: Adenine; Anemia, Macrocytic; Anemia, Megaloblastic; Animals; Bone Marrow; Brain Diseases; Erythrocyt | 1977 |
Purine base transport in normal and mutant erythrocytes.
Topics: Adenine; Erythrocytes; Gout; Humans; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Ny | 1979 |
Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.
Topics: Adenine; Adolescent; Adult; Aged; Carbon Radioisotopes; Child; Child, Preschool; Fructose; Humans; H | 1979 |
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.
Topics: Adenine; Adult; Carbon Radioisotopes; Fibroblasts; Guanine; Humans; Hypoxanthine Phosphoribosyltrans | 1979 |
Uptake of purine bases by HGPRT deficient erythrocytes.
Topics: Adenine; Biological Transport; Erythrocytes; Gout; Humans; Hypoxanthine Phosphoribosyltransferase; H | 1978 |
An alternate metabolic route for the synthesis of inosine 5'-phosphate (IMP) in the Lesch-Nyhan erythrocyte.
Topics: Adenine; Adenine Phosphoribosyltransferase; Erythrocytes; Formates; Humans; Hypoxanthines; Imidazole | 1977 |
Incorporation of hypoxanthine into adenine and guanine nucleotides by human platelets.
Topics: Adenine; Adenine Nucleotides; Blood Platelets; Chromatography, Ion Exchange; Chromatography, Thin La | 1975 |
Combined immunodeficiency disease: an inborn error of purine metabolism.
Topics: Adenine; Adenosine Deaminase; Chromosomes, Human, 19-20; Enzyme Inhibitors; Erythrocytes; Humans; Im | 1975 |
Rapid determination of hypoxanthine-guanine-phosphoribosyl transferase in human fibroblasts and amniotic cells.
Topics: Adenine; Amniotic Fluid; Carbon Radioisotopes; Chromatography, Thin Layer; Fibroblasts; Guanine; Hum | 1975 |
[Proceedings: New case of Lesch-Nyhan syndrome. Attempt at treatment using adenine].
Topics: Adenine; Allopurinol; Humans; Infant; Lesch-Nyhan Syndrome; Male; Uric Acid | 1975 |
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
Topics: Adenine; Amino Acid Sequence; B-Lymphocytes; Base Sequence; Cells, Cultured; Cloning, Molecular; DNA | 1988 |
EHNA is a poor inhibitor of deoxyadenosine catabolism in cultured human lymphocytes.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adenosine Deaminase; Adenosine Deaminase Inhibitors; Cel | 1985 |
Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.
Topics: Adenine; Adenine Phosphoribosyltransferase; Clinical Enzyme Tests; Erythrocytes; Humans; Japan; Lesc | 1985 |
Adenine therapy in Lesch-Nyhan syndrome.
Topics: Adenine; Allopurinol; Child; Drug Therapy, Combination; Female; Humans; Hypoxanthine Phosphoribosylt | 1985 |
Immunochemical studies of AMP:pyrophosphate phosphoribosyltransferase from normal and Lesch-Nyhan subjects.
Topics: Adenine; Animals; Antigen-Antibody Reactions; Dogs; Drug Stability; Erythrocytes; Haplorhini; Hot Te | 1973 |
Substrate stabilization: genetically-controlled reciprocal relationship between two enzymes.
Topics: Adenine; Athetosis; Diphosphates; Erythrocytes; Humans; Hypoxanthines; Intellectual Disability; Lesc | 1971 |
Effects of nicotinic acid on human fibroblast purine biosynthesis.
Topics: Adenine; Azaserine; Carbon Isotopes; Chromatography, Thin Layer; Diphosphates; Fibroblasts; Formates | 1972 |
Lesch-Nyhan mutation: the influence of population density on purine phosphoribosyltransferase activities and exogenous purine utilization in monolayer cultures of skin fibroblasts.
Topics: Adenine; Carbon Isotopes; Cells, Cultured; Female; Fibroblasts; Genotype; Guanine; Heterozygote; Hom | 1972 |
Increased activity of two enzymes of pyrimidine biosynthesis de novo in erythrocytes from patients with the Lesch-Nyhan syndrome.
Topics: Adenine; Adolescent; Allopurinol; Carbon Isotopes; Carboxy-Lyases; Child; Child, Preschool; Diphosph | 1973 |
Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates.
Topics: Adenine; Adolescent; Adult; Carbon Isotopes; Child; Electrophoresis, Polyacrylamide Gel; Female; Hai | 1973 |
Increased activity of adenine phosphoribosyltransferase in erythrocytes of normal newborn infants.
Topics: Adenine; Adult; Age Factors; Carbon Radioisotopes; Electrophoresis, Polyacrylamide Gel; Erythrocyte | 1974 |
Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adenine; Carbon Radioisotopes; Erythrocytes; Female; Heterozygote; Humans; Inosine Nucleotides; Lesc | 1974 |
Incorporation of hypoxanthine by PHA-stimulated HPRT-deficient lymphocytes.
Topics: Adenine; Adult; Autoradiography; Carbon Radioisotopes; Child; Glycosides; Humans; Hypoxanthines; Lec | 1974 |
Clinical and biochemical studies on treatment of Lesch-Nyhan syndrome.
Topics: Adenine; Allopurinol; Body Weight; Child, Preschool; Chlorpromazine; Creatinine; Exchange Transfusio | 1974 |
The Lesch-Nyhan syndrome: report of three cases.
Topics: Adenine; Adolescent; Adult; Allopurinol; Athetosis; Australia; Child; Humans; Hypoxanthines; Intelle | 1972 |
Purine metabolism in normal and thioguanine-resistant neuroblastoma.
Topics: Adenine; Animals; Carbon Radioisotopes; Clone Cells; Drug Resistance; Glutamine; Humans; Hypoxanthin | 1973 |
Variations in purine phosphoribosyl transferase enzymes during growth of fibroblast cell cultures.
Topics: Adenine; Adenosine Monophosphate; Carbon Isotopes; Cell Division; Cells, Cultured; Clinical Enzyme T | 1972 |
The spontaneous azaguanine-resistant mutants of diploid human fibroblasts.
Topics: Adenine; Azaguanine; Cells, Cultured; Diploidy; Drug Resistance; Electrophoresis; Fibroblasts; Gels; | 1972 |
Communication between normal and enzyme deficient cells in tissue culture.
Topics: Adenine; Animals; Autoradiography; Cells, Cultured; Contact Inhibition; Cricetinae; Fibroblasts; Glu | 1972 |
[The demonstration of hypoxanthine-guanine phosphoribosyl transferase enzyme protein in Lesch-Nyhan Syndrome].
Topics: Adenine; Erythrocytes; Guanine; Humans; Hypoxanthines; Lesch-Nyhan Syndrome; Phosphotransferases; Ri | 1973 |
Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome.
Topics: Adenine; Carbon Isotopes; Diet; Enzyme Activation; Guanine; Half-Life; Humans; Hypoxanthines; Lesch- | 1973 |
The Lesch-Nyhan syndrome. Metabolic studies during administration of adenine.
Topics: Adenine; Carbon Isotopes; Glycine; Humans; Hypoxanthines; Infant; Lesch-Nyhan Syndrome; Male; Pentos | 1973 |
Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.
Topics: Adenine; Adenine Nucleotides; Carbon Isotopes; Cells, Cultured; Fibroblasts; Guanine; Humans; Hypoxa | 1973 |
Role of glutamine in purine synthesis and in guanine nucleotide formation in normal fibroblasts and in fibroblasts deficient in hypoxanthine phosphoribosyltransferase activity.
Topics: Adenine; Carbon Isotopes; Cells, Cultured; Fibroblasts; Formates; Glutamine; Guanine Nucleotides; Hu | 1973 |
Adenine and folic acid in the Lesch-Nyhan syndrome.
Topics: Adenine; Animals; Carbon Radioisotopes; Central Nervous System Diseases; Cricetinae; Depression, Che | 1973 |
An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies.
Topics: Adenine; Autoradiography; Blood Group Antigens; Carbon Radioisotopes; Erythrocytes; Female; Fibrobla | 1973 |
Purine nucleotide synthesis, interconversion and catabolism in human leukocytes.
Topics: Adenine; Age Factors; Cells, Cultured; Computers; Drug Stability; Evaluation Studies as Topic; Guani | 1973 |
Resistance of erythrocyte adenine phosphoribosyltransferase in the Lesch-Nyhan syndrome to destabilization to heat by hypoxanthine.
Topics: Adenine; Carbon Radioisotopes; Child, Preschool; Dialysis; Drug Stability; Electrophoresis, Starch G | 1973 |
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency: effect of dietary purines on enzyme activity.
Topics: Adenine; Allopurinol; Carbon Radioisotopes; Diet; Diet Therapy; Drug Stability; Erythrocytes; Hot Te | 1973 |
Regulation of de novo purine synthesis in the Lesch-Nyhan syndrome.
Topics: Adenine; Adult; Ammonia; Carbon Radioisotopes; Cell-Free System; Cells, Cultured; Child, Preschool; | 1973 |
Erythrocyte PRPP concentrations in heterozygotes for HGPRTase deficiency.
Topics: Adenine; Erythrocytes; Female; Glycerophosphates; Guanine Nucleotides; Heterozygote; Humans; Hypoxan | 1973 |
Hypoxanthine-guanine phosphoribosyl transferase deficiency. Our experience.
Topics: Adenine; Adolescent; Adult; Allopurinol; Child; Erythrocytes; Female; Gout; Guanine Nucleotides; Hum | 1973 |
Stabilization by PRPP of cellular purine phosphoribosyltransferases against inactivation by freezing and thawing. Study of normal and hypoxanthine-guanine phosphoribosyltransferase deficient human fibroblasts.
Topics: Adenine; Animals; Cattle; Drug Stability; Fibroblasts; Freezing; Gout; Guanine Nucleotides; Humans; | 1973 |
[Isoenzymes of purine phosphoribosyltransferases in erythrocytes of Lesch-Nyhan patients (author's transl)].
Topics: Adenine; Electrophoresis, Polyacrylamide Gel; Enzyme Activation; Erythrocytes; Guanine; Humans; Hypo | 1974 |
Allopurinol and thiopurinol: effect in vivo on urinary oxypurine excretion and rate of synthesis of their ribonucleotides in different enzymatic deficiencies.
Topics: Adenine; Allopurinol; Erythrocytes; Female; Gout; Guanine; Humans; Hypoxanthines; Lesch-Nyhan Syndro | 1974 |
Acute renal failure during adenine therapy in Lesch-Nyhan syndrome.
Topics: Acute Kidney Injury; Adenine; Body Weight; Child, Preschool; Creatinine; Erythrocytes; Humans; Hydro | 1974 |
Behavioural changes during adenine therapy in Lesch-Nyhan syndrome.
Topics: Acute Kidney Injury; Adenine; Allopurinol; Child; Child Behavior; Humans; Lesch-Nyhan Syndrome; Male | 1974 |
Comment on the assay of purine phosphoribosyltransferases in cultured human fibroblasts.
Topics: Adenine; Cells, Cultured; Chromatography, Thin Layer; Drug Stability; Evaluation Studies as Topic; F | 1974 |
Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.
Topics: Adenine; Adolescent; Adult; Cells, Cultured; Child, Preschool; Chromosome Mapping; Electrophoresis, | 1974 |
Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency.
Topics: Adenine; Autoradiography; Carbon Radioisotopes; Cells, Cultured; Chromatography, Paper; Electrophore | 1974 |
Azaguanine-resistance as a manifestation of a new form of metabolic overproduction of uric acid.
Topics: Adenine; Adolescent; Aminopterin; Azaguanine; Blood Urea Nitrogen; Carbon Isotopes; Cell Line; Creat | 1972 |
Adaptive significance of inosine and adenosine kinase activities in cultured human skin fibroblasts.
Topics: Adenine; Adenosine; Azaserine; Cells, Cultured; Fibroblasts; Guanine; Humans; Hypoxanthines; Inosine | 1972 |
Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.
Topics: Adenine; Blood Protein Electrophoresis; Carbon Isotopes; Electrophoresis, Disc; Erythrocytes; Female | 1972 |
Further studies of the enzyme composition of mutant cells in X-linked uric aciduria.
Topics: Adenine; Athetosis; Erythrocytes; Fibroblasts; Guanine; Humans; Hypoxanthines; Inosine; Intellectual | 1972 |
Concentration of purine nucleotides in erythrocytes of patients with the Lesch-Nyhan syndrome before and during oral administration of adenine.
Topics: Adenine; Athetosis; Chemical Precipitation; Child; Child, Preschool; Erythrocytes; Hematocrit; Human | 1971 |
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; | 1970 |
Alterations in the activity of hypoxanthine and adenine phosphoribosyltransferase in patients with hyperuricaemia and gout.
Topics: Adenine; Adult; Erythrocytes; Gout; Humans; Hypoxanthines; Lesch-Nyhan Syndrome; Pentosyltransferase | 1971 |
Expression of two X-linked genes in human hair follicles of double heterozygotes.
Topics: Adenine; Adenine Nucleotides; Adolescent; Adult; Carbon Isotopes; Child; Electrophoresis; Female; Ge | 1971 |
Studies on the coordinate activity and liability of orotidylate phosphoribosyltransferase and decarboxylase in human erythrocytes, and the effects of allopurinol administration.
Topics: Adenine; Allopurinol; Carbon Isotopes; Carboxy-Lyases; Centrifugation, Density Gradient; Depression, | 1971 |
The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis.
Topics: Adenine; Animals; Child, Preschool; Electrophoresis, Disc; Erythrocytes; Guanine; Humans; Hypoxanthi | 1971 |