adenine has been researched along with Lesch-Nyhan Syndrome in 71 studies
Lesch-Nyhan Syndrome: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
| 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 Lesch-Nyhan 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 Lesch-Nyhan 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 |