hypoxanthine and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome

hypoxanthine has been researched along with Choreoathetosis Self-Mutilation Hyperuricemia Syndrome in 46 studies

Research

Studies (46)

Timeframe	Studies, this research(%)	All Research%
pre-1990	13 (28.26)	18.7374
1990's	11 (23.91)	18.2507
2000's	15 (32.61)	29.6817
2010's	6 (13.04)	24.3611
2020's	1 (2.17)	2.80

Authors

Authors	Studies
Binas, B; Burdon, T; Clinton, M; Meek, S; Sturmey, R; Sutherland, L; Wei, J	1
Baldini, E; Bernardini, G; Jacomelli, G; Micheli, V; Mugnaini, C; Santucci, A	1
Ding, H; Yang, CL; Yue, LJ	1
Benkovic, S; Fu, R; Huang, X; Jinnah, HA; Schretlen, DJ; Sutcliffe, D; Zhao, H	1
Callon, W; Fu, R; Gordon, B; Harris, JC; Ho, T; Jinnah, HA; Schretlen, DJ; Ward, RE	1
Garcia, MG; Prior, C; Puig, JG; Torres, RJ	1
García, MG; Puig, JG; Torres, RJ	1
da Cruz, JG; Delwing-Dal Magro, D; Delwing-de Lima, D; Ferreira, VV; Leite, EF; Wamser, MN; Wyse, AT	1
Deantonio, I; Prior, C; Puig, JG; Torres, RJ	4
Bavaresco, CS; Tagliari, B; Wajner, M; Wannmacher, CM; Wyse, AT; Zugno, AI	1
Muche, J; Rebentisch, G; Stolz, S	1
Bavaresco, CS; Chiarani, F; de Souza Wyse, AT; Matté, C; Netto, CA; Wajner, M	1
Prior, C; Puig, JG; Torres, RJ	3
Bavaresco, CS; Chiarani, F; Cunha, CD; Duringon, E; Ferro, MM; Netto, CA; Wyse, AT	1
Bavaresco, CS; Chiarani, F; Netto, CA; Wannmacher, CM; Wyse, AT	1
Bavaresco, CS; Chiarani, F; de Souza Wyse, AT; Kolling, J; Netto, CA	1
Fattal, A; Sperling, O; Spirer, Z; Zoref-Shani, E	1
Goedde, HW; Singh, S; Willers, I	1
Bartley, J; Gruber, HE; Hanson, JW; Marlow, TA; Plent, MM; Seegmiller, JE; Vuchinich, M; Willis, RC; Zellweger, H	1
Barshop, B; Nyhan, WL; Page, T; Yu, AL	1
Farnetani, MA; Marinello, E; Pagani, R; Pizzichini, M; Porcelli, B; Roscioni, G	1
Bromberg, Y; Brosh, S; Sidi, Y; Sperling, O; Zoref-Shani, E	1
Melton, DW; Wu, CL	1
Adachi, S; Bessho, R; Furusho, K; Kataoka, A; Koishi, S; Kubota, M; Lin, YW; Okuda, A; Sawada, M; Usami, I	1
Melton, DW; Redhead, NJ; Selfridge, J; Wu, CL	1
Cheng, RZ; Li, J; Shammas, MA; Shmookler Reis, RJ	1
Buño, AS; Mateos, FA; Puig, JG; Torres, RJ	1
Bain, D; Castro, MG; Fairbanks, LD; Larregina, AT; Löwenstein, PR; Morelli, AE; Simmonds, HA; Southgate, TD	1
Connolly, GP; Ma, MH; Stacey, NC	1
González, AG; Jiménez, ML; Mateos, FA; Puig, JG; Ramos, TH; Romera, NM	1
Greenwood, R; Harkness, RA; McCreanor, GM	1
Parker, BR; Stevens, SK	1
Gustmann, H; Manzke, H	1
García Puig, J; López Jiménez, M; Mateos Antón, F; Ortiz Vázquez, J; Pascual Castroviejo, I; Ramos Hernández, T	1
Fox, IH; Hornykiewicz, O; Kapur, BM; Kish, SJ; Lloyd, K	1
Kamatani, N; Mikanagi, K; Nishida, Y; Nishioka, K; Yamanaka, H	1
Godde, HW; Held, K; Singh, S; Willers, I	1
Gruber, HE; Koenker, R; Luchtman, LA; Seegmiller, JE; Willis, RC	1
Gustmann, H; Koke, HG; Manzke, H; Nyhan, WL	1
Kelley, WN; Wilson, JM	1
Emmerson, BT; Gordon, RB; Keough, D; Kranen, S	1

Reviews

3 review(s) available for hypoxanthine and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome

Article	Year
[Research progress in hypoxanthine-guanine phosphoribosyltrans-ferase]. Yi chuan = Hereditas, 2013, Volume: 35, Issue:8 Topics: Guanine; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Mutation	2013
A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease. Nucleosides, nucleotides & nucleic acids, 2016, Volume: 35, Issue:10-12 Topics: Adenosine; Biological Transport; Cell Differentiation; Homeodomain Proteins; Humans; Hypoxanthine; Lesch-Nyhan Syndrome; Neurons; Wnt4 Protein	2016
Molecular genetics of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. Archives of internal medicine, 1985, Volume: 145, Issue:10 Topics: Base Sequence; Binding Sites; Genes; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Nyhan Syndrome; Molecular Biology; Mutation; Protein Conformation; RNA, Messenger	1985

Other Studies

43 other study(ies) available for hypoxanthine and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome

Article	Year
Hypoxanthine phosphoribosyltransferase (HPRT)-deficiency is associated with impaired fertility in the female rat. Molecular reproduction and development, 2020, Volume: 87, Issue:9 Topics: Animals; Embryonic Development; Female; Fertility; Fetal Viability; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Infertility, Female; Lesch-Nyhan Syndrome; Pregnancy; Purines; Rats	2020
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G. Journal of inherited metabolic disease, 2019, Volume: 42, Issue:1 Topics: Allopurinol; Cells, Cultured; Enzyme Inhibitors; Humans; Hyperuricemia; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Purine-Nucleoside Phosphorylase; Purines; Pyrimidinones; Pyrroles; Reproducibility of Results; Uric Acid; Xanthine	2019
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. Molecular genetics and metabolism, 2015, Volume: 114, Issue:1 Topics: Cells, Cultured; Fibroblasts; Guanine; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Purines	2015
Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling? Journal of inherited metabolic disease, 2016, Volume: 39, Issue:1 Topics: Adolescent; Adult; Case-Control Studies; Fibroblasts; Guanine; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Male; Phenotype; Purines; Skin; Young Adult	2016
Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients. Brain, behavior, and immunity, 2009, Volume: 23, Issue:8 Topics: Adenosine; Adolescent; Child; Child, Preschool; Dopamine; Dopamine Plasma Membrane Transport Proteins; Humans; Hypoxanthine; Lesch-Nyhan Syndrome; Lymphocytes; Receptors, Adenosine A2; Receptors, Dopamine; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Young Adult	2009
Effect of hypoxanthine, antioxidants and allopurinol on cholinesterase activities in rats. Journal of neural transmission (Vienna, Austria : 1996), 2013, Volume: 120, Issue:9 Topics: Acetylcholinesterase; Allopurinol; alpha-Tocopherol; Analysis of Variance; Animals; Antioxidants; Ascorbic Acid; Butyrylcholinesterase; Cholinesterases; Enzyme Inhibitors; Free Radicals; Hypoxanthine; Lesch-Nyhan Syndrome; Rats; Rats, Wistar; Uric Acid	2013
Adenosine transport in peripheral blood lymphocytes from Lesch-Nyhan patients. The Biochemical journal, 2004, Feb-01, Volume: 377, Issue:Pt 3 Topics: Adenosine; Biological Transport; Cells, Cultured; Cyclic AMP; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Lymphocytes; Thioinosine	2004
Inhibition of Na+, K+-ATPase activity in rat striatum by the metabolites accumulated in Lesch-Nyhan disease. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2004, Volume: 22, Issue:1 Topics: Analysis of Variance; Animals; Animals, Newborn; Corpus Striatum; Dose-Response Relationship, Drug; Drug Interactions; Humans; Hypoxanthine; In Vitro Techniques; Kinetics; Lesch-Nyhan Syndrome; Linear Models; Rats; Sodium-Potassium-Exchanging ATPase; Synaptic Membranes; Uric Acid; Xanthine	2004
[Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. Aktuelle Urologie, 2004, Volume: 35, Issue:3 Topics: Allopurinol; Child; Dose-Response Relationship, Drug; Drug Monitoring; Humans; Hypoxanthine; Kidney Calculi; Lesch-Nyhan Syndrome; Male; Uric Acid; Xanthine	2004
Effects of hypoxanthine on adenosine transport in human lymphocytes. Implications in the pathogenesis of Lesch-Nyhan syndrome. Nucleosides, nucleotides & nucleic acids, 2004, Volume: 23, Issue:8-9 Topics: Adenosine; Binding Sites; Biological Transport; Cyclic AMP; Dose-Response Relationship, Drug; Humans; Hypoxanthine; Lesch-Nyhan Syndrome; Lymphocytes; Time Factors	2004
Hypoxanthine effects on cyclic AMP levels in human lymphocytes. Nucleosides, nucleotides & nucleic acids, 2004, Volume: 23, Issue:8-9 Topics: Adenosine; Antihypertensive Agents; Cyclic AMP; Enzyme-Linked Immunosorbent Assay; Humans; Hypoxanthine; Lesch-Nyhan Syndrome; Lymphocytes; Phenethylamines; Receptors, Adenosine A2; Receptors, Purinergic P1; Temperature; Time Factors	2004
Adenosine transport in HPRT deficient lymphocytes from Lesch-Nyhan disease patients. Nucleosides, nucleotides & nucleic acids, 2004, Volume: 23, Issue:8-9 Topics: Adenosine; Biological Transport; Dose-Response Relationship, Drug; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Kinetics; Lesch-Nyhan Syndrome; Lymphocytes; Nucleosides; Nucleotides; Time Factors	2004
Effect of hypoxanthine on Na+,K+-ATPase activity and some parameters of oxidative stress in rat striatum. Brain research, 2005, Apr-18, Volume: 1041, Issue:2 Topics: Animals; Antioxidants; Corpus Striatum; Enzyme Inhibitors; Free Radicals; Hypoxanthine; Lesch-Nyhan Syndrome; Membrane Proteins; Models, Neurological; Neurons; Oxidative Stress; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Subcellular Fractions; Sulfhydryl Compounds; Synaptic Membranes; Synaptic Transmission; Thiobarbituric Acid Reactive Substances	2005
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome. Nucleosides, nucleotides & nucleic acids, 2006, Volume: 25, Issue:9-11 Topics: Adenosine; Biological Transport; Case-Control Studies; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Lymphocytes	2006
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients. Nucleosides, nucleotides & nucleic acids, 2006, Volume: 25, Issue:9-11 Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Follow-Up Studies; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Infant; Lesch-Nyhan Syndrome; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Spain; Uric Acid; Xanthine	2006
Intrastriatal injection of hypoxanthine reduces striatal serotonin content and impairs spatial memory performance in rats. Metabolic brain disease, 2007, Volume: 22, Issue:1 Topics: 3,4-Dihydroxyphenylacetic Acid; Animals; Corpus Striatum; Dopamine; Homovanillic Acid; Hydroxyindoleacetic Acid; Hypoxanthine; Lesch-Nyhan Syndrome; Male; Maze Learning; Memory; Microinjections; Rats; Rats, Wistar; Serotonin; Space Perception	2007
Intrastriatal hypoxanthine reduces Na(+),K (+)-ATPase activity and induces oxidative stress in the rats. Metabolic brain disease, 2007, Volume: 22, Issue:1 Topics: Animals; Antioxidants; Cell Membrane; Cerebral Cortex; Corpus Striatum; Hippocampus; Hypoxanthine; Lesch-Nyhan Syndrome; Lipid Peroxidation; Microinjections; Oxidative Stress; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase	2007
Hypoxanthine decreases equilibrative type of adenosine transport in lymphocytes from Lesch-Nyhan patients. European journal of clinical investigation, 2007, Volume: 37, Issue:11 Topics: Adenosine; Adolescent; Adult; Child; Child, Preschool; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Lymphocytes; Nucleoside Transport Proteins	2007
Biochemical effects of pretreatment with vitamins E and C in rats submitted to intrastriatal hypoxanthine administration. Neurochemistry international, 2008, Volume: 52, Issue:6 Topics: Animals; Antioxidants; Ascorbic Acid; Catalase; Corpus Striatum; Disease Progression; Free Radicals; Hypoxanthine; Lesch-Nyhan Syndrome; Oxidative Stress; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Superoxide Dismutase; Superoxide Dismutase-1; Thiobarbituric Acid Reactive Substances; Treatment Outcome; Vitamin E	2008
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
Studies in fibroblasts of patients with the Lesch-Nyhan syndrome and HPRT variants. Correlation of HPRT activity with hypoxanthine utilization and growth in selection media. Enzyme, 1984, Volume: 32, Issue:4 Topics: Azaguanine; Cell Line; Cells, Cultured; Culture Media; Fibroblasts; Genetic Variation; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Nyhan Syndrome	1984
Clinical and biochemical correlates of a new HPRT mutation. Advances in experimental medicine and biology, 1984, Volume: 165 Pt A Topics: Child; Clinical Enzyme Tests; Erythrocytes; Fibroblasts; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Nyhan Syndrome; Lymphocytes; Male; Mutation	1984
Treatment of Lesch-Nyhan syndrome with AICAR. Advances in experimental medicine and biology, 1994, Volume: 370 Topics: Adolescent; Aminoimidazole Carboxamide; Humans; Hypoxanthine; Hypoxanthines; Infusions, Intravenous; Lesch-Nyhan Syndrome; Leukemia; Male; Oxypurinol; Ribonucleotides; Uric Acid; Xanthine; Xanthines	1994
Plasma and urinary oxypurines in Lesch-Nyhan patient after allopurinol treatment. Advances in experimental medicine and biology, 1994, Volume: 370 Topics: Child; Erythrocytes; Fibroblasts; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Nyhan Syndrome; Male; Purines; Uric Acid; Xanthine; Xanthines	1994
Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line. Journal of neurochemistry, 1993, Volume: 61, Issue:2 Topics: Adenine; Adenine Nucleotides; Animals; Formates; Guanine; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Nyhan Syndrome; Neuroma; Purine Nucleotides; Rats; Tumor Cells, Cultured; Xanthine; Xanthines	1993
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. Nature genetics, 1993, Volume: 3, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Animals; Brain; Caffeine; Cell Division; Cells, Cultured; Disease Models, Animal; Embryo, Mammalian; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Nyhan Syndrome; Mice; Mice, Mutant Strains; Purines; Self-Injurious Behavior; Stem Cells; Thymidine	1993
Methotrexate inhibits superoxide production and chemotaxis in neutrophils activated by granulocyte colony-stimulating factor. Journal of cellular physiology, 1996, Volume: 168, Issue:1 Topics: Cells, Cultured; Chemotaxis, Leukocyte; Folic Acid Antagonists; Granulocyte Colony-Stimulating Factor; Guanosine; Humans; Hypoxanthine; Hypoxanthines; Lesch-Nyhan Syndrome; Leucovorin; Methotrexate; N-Formylmethionine Leucyl-Phenylalanine; Neutrophils; Recombinant Proteins; Respiratory Burst; Superoxides	1996
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. Human gene therapy, 1996, Aug-20, Volume: 7, Issue:13 Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Allopurinol; Animals; Blotting, Southern; Chromatography, High Pressure Liquid; Cloning, Molecular; Crystallization; Disease Models, Animal; Genotype; Humans; Hypoxanthine; Kidney; Lesch-Nyhan Syndrome; Mice; Mice, Transgenic; Polymerase Chain Reaction; Purines	1996
Expression of SV40 large T antigen stimulates reversion of a chromosomal gene duplication in human cells. Experimental cell research, 1997, Aug-01, Volume: 234, Issue:2 Topics: Antigens, Polyomavirus Transforming; Cell Division; Cell Line, Transformed; Cell Transformation, Viral; Clone Cells; Dexamethasone; DNA; Fibroblasts; Gene Deletion; Glucocorticoids; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Methotrexate; Multigene Family; Recombination, Genetic; RNA, Messenger; Simian virus 40; Thymidine	1997
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency. European journal of clinical investigation, 1998, Volume: 28, Issue:11 Topics: Adolescent; Adult; Aged; Case-Control Studies; Female; Heterozygote; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Male; Middle Aged; Purines; Spain; Xanthine	1998
Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium. Metabolic brain disease, 1999, Volume: 14, Issue:4 Topics: Adenine; Adenoviridae; Animals; Carbon Radioisotopes; Cell Survival; Cells, Cultured; Culture Media; Cytomegalovirus; DNA, Complementary; Fibroblasts; Genes, Immediate-Early; Genetic Therapy; Genetic Vectors; Glycine; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Mice; Promoter Regions, Genetic; Ribonucleotides; Time Factors; Transcription, Genetic	1999
Hypoxanthine impairs morphogenesis and enhances proliferation of a neuroblastoma model of Lesch Nyhan syndrome. Journal of neuroscience research, 2001, Mar-15, Volume: 63, Issue:6 Topics: Animals; Cell Division; Culture Media; Energy Metabolism; Hypoxanthine; Lesch-Nyhan Syndrome; Neuroblastoma; Neurons; Rats; Tumor Cells, Cultured	2001
Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis. Advances in experimental medicine and biology, 1991, Volume: 309B Topics: Adult; Amniotic Fluid; Female; Fetal Blood; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Nyhan Syndrome; Male; Pedigree; Pregnancy; Prenatal Diagnosis; Purines; Uric Acid; Xanthine; Xanthines	1991
The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase. Journal of inherited metabolic disease, 1991, Volume: 14, Issue:2 Topics: Adenosine Triphosphate; Adult; Aging; Body Mass Index; Creatinine; Exercise; Female; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Kinetics; Lesch-Nyhan Syndrome; Male; Middle Aged; Uric Acid; Xanthine; Xanthines	1991
Renal oxypurine deposition in Lesch-Nyhan syndrome: sonographic evaluation. Pediatric radiology, 1989, Volume: 19, Issue:6-7 Topics: Allopurinol; Child; Humans; Hypoxanthine; Hypoxanthines; Kidney Calculi; Lesch-Nyhan Syndrome; Male; Ultrasonography; Uric Acid; Xanthine; Xanthines	1989
Reduced urinary serotonin excretion after intake of high doses of hypoxanthine. European journal of pediatrics, 1989, Volume: 148, Issue:4 Topics: Adult; Allopurinol; Dose-Response Relationship, Drug; Humans; Hydrocortisone; Hypoxanthine; Hypoxanthines; Lesch-Nyhan Syndrome; Serotonin	1989
[Purine transport through the blood-brain barrier in hypoxanthine phosphoribosyltransferase deficiency]. Medicina clinica, 1989, Feb-11, Volume: 92, Issue:5 Topics: Adolescent; Adult; Allopurinol; Blood-Brain Barrier; Child; Child, Preschool; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Nyhan Syndrome; Male; Purines; Xanthine; Xanthines	1989
Brain benzodiazepine receptor binding and purine concentration in Lesch-Nyhan syndrome. Brain research, 1985, Jun-10, Volume: 336, Issue:1 Topics: Adolescent; Adult; Cerebral Cortex; gamma-Aminobutyric Acid; Humans; Hypoxanthine; Hypoxanthines; Inosine; Lesch-Nyhan Syndrome; Purines; Receptors, GABA-A; Synaptic Transmission; Xanthine; Xanthines	1985
Diagnosis of Lesch-Nyhan heterozygotes by peripheral blood. Advances in experimental medicine and biology, 1986, Volume: 195 Pt A Topics: Azaserine; Cells, Cultured; Genetic Carrier Screening; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Kinetics; Lesch-Nyhan Syndrome; Lymphocyte Activation; Lymphocytes; Male; Reference Values; Thioguanine	1986
Investigation of purine utilization in cultured fibroblasts, amniocytes and chorionic villi: an attempt towards understanding clinical variability in Lesch-Nyhan syndrome. Advances in experimental medicine and biology, 1986, Volume: 195 Pt A Topics: Amniotic Fluid; Biological Transport; Cells, Cultured; Chorion; Female; Fibroblasts; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Kinetics; Lesch-Nyhan Syndrome; Microvilli; Pregnancy; Purines; Reference Values	1986
The biochemical mechanism of metabolic cooperation. Advances in experimental medicine and biology, 1986, Volume: 195 Pt A Topics: Autoradiography; Cell Line; Cells, Cultured; Culture Techniques; Fibroblasts; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lesch-Nyhan Syndrome; Male; Mutation; Tritium	1986
Hypoxanthine and tetrahydrobiopterin treatment of a patient with features of the Lesch-Nyhan syndrome. Advances in experimental medicine and biology, 1986, Volume: 195 Pt A Topics: Adult; Allopurinol; Biopterins; Drug Administration Schedule; Humans; Hypoxanthine; Hypoxanthines; Lesch-Nyhan Syndrome; Male; Pteridines; Serotonin	1986
Xanthine-containing calculi during allopurinol therapy. The Journal of urology, 1985, Volume: 133, Issue:4 Topics: Adult; Allopurinol; Humans; Hypoxanthine; Hypoxanthines; Kidney Calculi; Lesch-Nyhan Syndrome; Male; Oxypurinol; Uric Acid; Xanthine; Xanthines	1985