uric acid has been researched along with Autotomy Human in 93 studies
Uric Acid: An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.
uric acid : An oxopurine that is the final oxidation product of purine metabolism.
6-hydroxy-1H-purine-2,8(7H,9H)-dione : A tautomer of uric acid having oxo groups at C-2 and C-8 and a hydroxy group at C-6.
7,9-dihydro-1H-purine-2,6,8(3H)-trione : An oxopurine in which the purine ring is substituted by oxo groups at positions 2, 6, and 8.
| Excerpt | Relevance | Reference |
|---|---|---|
| " Hyperuricemia leads to hyperuricuria and uric acid nephrolithiasis." | 3.74 | Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis. ( Kersnik Levart, T, 2007) |
| "Certain gouty subjects with excessive de novo purine synthesis are deficient in hypoxanthineguanine phosphoribosyltransferase (HG-PRTase [EC 2." | 3.65 | Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency. ( Sorensen, LB, 1970) |
| "In contrast, at complete HPRT deficiency, besides overproduction of uric acid neurological problems appear including spasticity, choreoathetosis, mental retardation, and compulsive self-mutilation." | 1.32 | The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis. ( Mitev, VI; Neychev, VK, 2004) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 90 (96.77) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (3.23) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| HOEFNAGEL, D | 2 |
| ANDREW, ED | 1 |
| MIREAULT, NG | 1 |
| BERNDT, WO | 1 |
| Neychev, VK | 1 |
| Mitev, VI | 1 |
| Maramattom, BV | 1 |
| Kersnik Levart, T | 1 |
| Michener, WM | 1 |
| Howard, RS | 1 |
| Walzak, MP | 1 |
| Partington, MW | 1 |
| Hennen, BK | 1 |
| Gottlieb, RP | 1 |
| Koppel, MM | 1 |
| Nyhan, WL | 7 |
| Bakay, B | 2 |
| Nissinen, E | 1 |
| Borden, M | 1 |
| Page, T | 1 |
| Kawai, K | 1 |
| Fujita, T | 1 |
| Itakura, M | 1 |
| Shimizu, S | 1 |
| Koide, Y | 1 |
| Kugai, N | 1 |
| Kimura, S | 1 |
| Yamashita, K | 1 |
| Ogata, E | 1 |
| Seegmiller, JE | 8 |
| Schneider, W | 1 |
| Morgenstern, E | 1 |
| Schindera, I | 1 |
| Proctor, P | 1 |
| McGinness, JE | 1 |
| Dormoy, O | 1 |
| Ajzenberg, D | 1 |
| van der Zee, SP | 3 |
| Schretlen, ED | 3 |
| Monnens, LA | 2 |
| Beardmore, TD | 1 |
| Fox, IH | 2 |
| Kelley, WN | 6 |
| Reed, WB | 2 |
| Fish, CH | 1 |
| Lenoch, F | 1 |
| Kölle, G | 1 |
| Felix, JS | 1 |
| DeMars, R | 1 |
| Dawson, DM | 1 |
| Wyngaarden, JB | 1 |
| McDonald, JA | 1 |
| Wood, MH | 1 |
| Fox, RM | 1 |
| Vincent, L | 1 |
| Reye, C | 1 |
| O'Sullivan, WJ | 1 |
| Emmerson, BT | 2 |
| Crawhall, JC | 1 |
| Henderson, JF | 1 |
| Champanier, JP | 1 |
| Etienne, JC | 1 |
| Gougeon, J | 1 |
| Pascalis, G | 1 |
| Eyssette, M | 1 |
| Setiey, A | 1 |
| Aimard, G | 1 |
| Devic, M | 1 |
| Meigel, W | 1 |
| Braun-Falco, O | 1 |
| Sweetman, L | 1 |
| Lesch, M | 1 |
| Wada, Y | 2 |
| Wallace, DC | 1 |
| Thompson, CJ | 1 |
| Van Heeswijk, PJ | 1 |
| Blank, CH | 1 |
| Jacobson, CB | 1 |
| Greene, ML | 3 |
| Láhoda, F | 1 |
| Ross, A | 1 |
| Manzke, H | 2 |
| Harms, D | 1 |
| Dörner, K | 2 |
| Cox, RP | 2 |
| Krauss, MR | 1 |
| Balis, ME | 5 |
| Dancis, J | 5 |
| Storey, B | 1 |
| Berman, PH | 4 |
| Jansen, V | 1 |
| Labrune, B | 2 |
| Cartier, P | 2 |
| Bonnenfant, F | 2 |
| Ribierre, M | 2 |
| Mallet, R | 2 |
| Refsum, S | 1 |
| Kaiser, W | 1 |
| Zöllner, N | 1 |
| Jones, CE | 1 |
| Smith, EE | 1 |
| Hicks, W | 1 |
| Crowell, JW | 1 |
| Sorensen, LB | 2 |
| Lommen, EJ | 1 |
| Trijbels, JM | 1 |
| Ghadimi, H | 1 |
| Bhalla, CK | 1 |
| Kirchenbaum, DM | 1 |
| Choi, KW | 1 |
| Bloom, AD | 1 |
| Boyle, JA | 1 |
| Raivio, KO | 1 |
| Astrin, KH | 1 |
| Schulman, JD | 1 |
| Graf, ML | 1 |
| Jacobsen, CB | 1 |
| Frost, P | 1 |
| Weinstein, GD | 1 |
| Omura, GA | 1 |
| Jolley, RL | 1 |
| Scott, CD | 1 |
| Chow, DC | 1 |
| Kawahara, FS | 1 |
| Saunders, T | 1 |
| Sarto, GE | 1 |
| Dizmang, LH | 1 |
| Cheatham, CF | 1 |
| Newcombe, DS | 4 |
| Arima, M | 1 |
| Aoki, N | 1 |
| Ono, K | 1 |
| Vaisrub, S | 1 |
| Mizuno, T | 1 |
| Segawa, M | 1 |
| Kurumada, T | 1 |
| Maruyama, H | 1 |
| Onisawa, J | 1 |
| Benke, PJ | 1 |
| Krakoff, IH | 1 |
| Munsat, TL | 1 |
| Klinenberg, J | 1 |
| Carell, RE | 1 |
| Menkes, J | 1 |
| Marks, JF | 1 |
| Baum, J | 1 |
| Keele, DK | 1 |
| Kay, JL | 1 |
| MacFarlen, A | 1 |
| Dreifuss, FE | 3 |
| Shapiro, SL | 3 |
| Sheppard, GL | 3 |
| Becker, MH | 1 |
| Wallin, JK | 1 |
| Kaufman, JM | 1 |
| Fujimoto, WY | 1 |
| Byrne, WL | 1 |
| Bazelon, M | 1 |
| Stevens, H | 1 |
| Davis, M | 1 |
| Green, M | 1 |
| Bluestone, R | 1 |
| Rosenberg, D | 1 |
| Monnet, P | 1 |
| Mamelle, JC | 1 |
| Colombel, M | 1 |
| Salle, B | 1 |
| Bovier-Lapierre, M | 1 |
| Scott, JT | 1 |
| Watts, RW | 1 |
| Sass, JK | 1 |
| Itabashi, HH | 1 |
| Dexter, RA | 1 |
| Dodge, PR | 1 |
6 reviews available for uric acid and Autotomy Human
| Article | Year |
|---|---|
Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
Topics: Adolescent; Adult; Anemia, Megaloblastic; Child; Child, Preschool; Chromosome Mapping; Erythrocytes; | 1976 |
[Lesh-Nyhan syndrome. Paralysis cerebralis hyperurinogenica].
Topics: Adolescent; Adult; Athetosis; Chemical Phenomena; Chemistry; Child; Compulsive Behavior; Female; Hum | 1970 |
Diagnosis and treatment of the Lesch-Nyhan syndrome.
Topics: Allopurinol; Amniocentesis; Athetosis; Brain; Erythrocytes; Fibroblasts; Humans; Intellectual Disabi | 1972 |
[Congenital disorder of purine metabolism].
Topics: Athetosis; Chorea; Compulsive Behavior; Humans; Intellectual Disability; Metabolism, Inborn Errors; | 1970 |
[Treatment of congenital purine-pyrimidine metabolism anomalies].
Topics: Athetosis; Chorea; Compulsive Behavior; Gout; Humans; Intellectual Disability; Orotic Acid; Purine-P | 1971 |
Biochemical and genetic studies of an X-linked neurological disease (The Lesch-Nyhan syndrome).
Topics: Animals; Athetosis; Cells, Cultured; Cerebral Palsy; Child; Disease Models, Animal; Feedback; Female | 1971 |
1 trial available for uric acid and Autotomy Human
| Article | Year |
|---|---|
Effects of the uricogenic agent, 2-ethylamino-1,3,4-thiadiazole in hypoxanthine-guanine phosphoribosyl transferase deficiency.
Topics: Adolescent; Athetosis; Azoles; Carbon Isotopes; Cerebral Palsy; Child; Chorea; Clinical Trials as To | 1968 |
86 other studies available for uric acid and Autotomy Human
| Article | Year |
|---|---|
THE SYNDROME OF ATHETOID CEREBRAL PALSY, MENTAL DEFICIENCY, SELF-MUTILATION AND HYPERURICEMIA.
Topics: Athetosis; Blood Chemical Analysis; Blood Urea Nitrogen; Cerebral Palsy; Child; Genetics, Medical; H | 1965 |
HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.
Topics: Athetosis; Blood; Child; Chorea; Colorimetry; Genetics, Medical; Humans; Hyperuricemia; Infant; Male | 1965 |
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
Topics: Animals; Biochemistry; Brain; Humans; Hypoxanthine Phosphoribosyltransferase; Intellectual Disabilit | 2004 |
Self-mutilation in the Lesch-Nyhan syndrome.
Topics: Arm Injuries; Bites, Human; Central Nervous System; Child; Diagnosis, Differential; Humans; Hypoxant | 2005 |
Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis.
Topics: Cerebral Palsy; Child; Diagnosis, Differential; Humans; Kidney; Lesch-Nyhan Syndrome; Male; Nephroca | 2007 |
Hyperuricemia and mental retardation with athetosis and self-mutilation.
Topics: Allopurinol; Athetosis; Body Height; Body Weight; Child; Child, Preschool; Chorea; Humans; Infant; I | 1967 |
A new cause for uric acid stones in childhood.
Topics: Child, Preschool; Humans; Intellectual Disability; Kidney Calculi; Male; Movement Disorders; Self Mu | 1967 |
The Lesch-Nyhan syndrome: self-destructive biting, mental retardation, neurological disorder and hyperuricaemia.
Topics: Ascorbic Acid; Body Weight; Child, Preschool; Diet Therapy; Humans; Intellectual Disability; Male; M | 1967 |
Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation - a new HPRT variant.
Topics: Adolescent; Athetosis; Chorea; Erythrocytes; Fibroblasts; Humans; Hypoxanthine Phosphoribosyltransfe | 1982 |
[A case of primary hypouricosuric gout associated with mental retardation, self-mutilation and salt dependent hypertension (author's transl)].
Topics: Adolescent; Gout; Humans; Hypertension; Intellectual Disability; Male; Self Mutilation; Uric Acid | 1980 |
The Lesch-Nyhan syndrome.
Topics: 5-Hydroxytryptophan; Adolescent; Aggression; Allopurinol; Behavior Therapy; Child; Child Behavior Di | 1978 |
[Lesch-Nyhan syndrome without self-mutilation: biochemical and morphological studies on blood cells (author's transl)].
Topics: Adult; Erythrocytes; Histocytochemistry; Humans; Hypoxanthine Phosphoribosyltransferase; Intellectua | 1976 |
Levodopa side-effects and the Lesch-Nyhan syndrome.
Topics: Athetosis; Chorea; Compulsive Behavior; Diagnosis, Differential; Dihydroxyphenylalanine; Humans; Int | 1970 |
[Familial encephalopathy with oligophrenia and congenital indifference to pain and Laurence-Moon-Bardet-Biedl syndrome].
Topics: Alkaline Phosphatase; Brain Diseases; Child; Esterases; Female; Glucosephosphate Dehydrogenase; Huma | 1970 |
Megaloblastic anaemia in the Lesch-Nyhan syndrome.
Topics: Adenine; Anemia, Macrocytic; Cerebral Palsy; Child; Humans; Intellectual Disability; Male; Movement | 1968 |
Effect of allopurinol on pyrimidine metabolism in the Lesch-Nyhan syndrome.
Topics: Allopurinol; Athetosis; Child; Chorea; Compulsive Behavior; Humans; Intellectual Disability; Orotic | 1970 |
Hyperuricemia with self-mutilation and choreo-athetosis. Lesch-Nyhan syndrome.
Topics: Athetosis; Child; Humans; Huntington Disease; Intellectual Disability; Male; Self Mutilation; Uremia | 1966 |
Studies on the adenine phosphoribosyltransferase enzyme in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase.
Topics: Athetosis; Compulsive Behavior; Culture Techniques; Fibroblasts; Humans; Huntington Disease; Intelle | 1971 |
[Hyperuricemia and gout in childhood (Lesch-Nyhan syndrome)].
Topics: Adolescent; Athetosis; Brain; Child; Child, Preschool; Compulsive Behavior; Gout; Humans; Huntington | 1971 |
Detection of females heterozygous for the Lesch-Nyhan mutation by 8-azaguanine-resistant growth of cultured fibroblasts.
Topics: Athetosis; Autoradiography; Azaguanine; Biopsy; Compulsive Behavior; Culture Techniques; Female; Fib | 1971 |
Absence of guanine deaminase from cerebellum.
Topics: Aminohydrolases; Animals; Athetosis; Brain; Brain Chemistry; Cats; Caudate Nucleus; Cerebellum; Cere | 1971 |
Hyperuricemia. Case presentation.
Topics: Adolescent; Adult; Athetosis; Child; Child, Preschool; Diagnosis, Differential; Fibroblasts; Humans; | 1971 |
Regulation of purine biosynthesis in cultured human cells. I. Effects of orotic acid.
Topics: Adolescent; Adult; Athetosis; Cell Line; Chorea; Compulsive Behavior; Culture Techniques; Fibroblast | 1970 |
Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.
Topics: Athetosis; Child; Chorea; Compulsive Behavior; Diphosphates; Erythrocytes; Guanine; Humans; Hypoxant | 1971 |
[Genetic aspects in dermatology].
Topics: Adult; Alopecia; Amino Acid Metabolism, Inborn Errors; Athetosis; Carotid Body Tumor; Chorea; Chromo | 1970 |
Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.
Topics: Athetosis; Carbon Isotopes; Chromatography, Gel; Diphosphates; Electrophoresis, Disc; Enzyme Activat | 1972 |
The Lesch-Nyhan syndrome: report of three cases.
Topics: Adenine; Adolescent; Adult; Allopurinol; Athetosis; Australia; Child; Humans; Hypoxanthines; Intelle | 1972 |
Metabolic implications of the Lesch-Nyhan syndrome.
Topics: Athetosis; Gout; Humans; Intellectual Disability; Lesch-Nyhan Syndrome; Mass Screening; Purine-Pyrim | 1972 |
[Encephalopathy with self mutilations in a twin. Normal HGPRT activity. Hyperuricosuria without major hyperuricemia. Apropos of the limits of the Lesch-Nyham syndrome].
Topics: Adolescent; Brain Diseases; Diagnosis, Differential; Diseases in Twins; Humans; Lesch-Nyhan Syndrome | 1972 |
[Self mutilation behavior and uric acid metabolism disorders in an adult (Lesch-Nyhan syndrome?)].
Topics: Adult; Age Factors; Diagnosis, Differential; Humans; Lesch-Nyhan Syndrome; Male; Neurologic Manifest | 1972 |
[Self mutilation of the lower lip, associated with athetosis and oligophrenia without purine metabolism disorder ("pseudo Lesch-Nyhan syndrome")].
Topics: Athetosis; Clinical Enzyme Tests; Diagnosis, Differential; Guanine; Humans; Hypoxanthines; Infant; I | 1973 |
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.
Topics: Adolescent; Adult; Aged; Athetosis; Child; Child, Preschool; Chorea; Compulsive Behavior; Erythrocyt | 1972 |
Preventive control of the Lesch-Nyhan syndrome.
Topics: Abortion, Therapeutic; Amniocentesis; Amniotic Fluid; Athetosis; Chromatography, Thin Layer; Creatin | 1972 |
Clinical features of the Lesch-Nyhan syndrome.
Topics: Adolescent; Allopurinol; Athetosis; Child, Preschool; Humans; Intellectual Disability; Lesch-Nyhan S | 1972 |
Biochemistry of the X-linked uric aciduria--enzyme defect and its genetic variants.
Topics: Athetosis; Gout; Guanine; Humans; Hypoxanthines; Intellectual Disability; Lesch-Nyhan Syndrome; Phos | 1972 |
Clinical features of patients with the "partial" deficiency of the X-linked uricaciduria enzyme.
Topics: Adult; Athetosis; Female; Gout; Humans; Hypoxanthines; Intellectual Disability; Lesch-Nyhan Syndrome | 1972 |
[Neurological complications in uricopathy].
Topics: Adult; Athetosis; Cardiovascular Diseases; Chorea; Compulsive Behavior; Female; Humans; Intellectual | 1972 |
[Treatment of congenital hyperuricemia].
Topics: Adolescent; Allopurinol; Athetosis; Child; Humans; Hypoxanthines; Intellectual Disability; Lesch-Nyh | 1971 |
Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of Lesch-Nyhan disease and normal cells.
Topics: Clinical Enzyme Tests; Compulsive Behavior; Culture Techniques; Fibroblasts; Heterozygote; Humans; H | 1970 |
The Lesch-Nyhan syndrome.
Topics: Child, Preschool; Humans; Infant Nutrition Disorders; Intellectual Disability; Male; Movement Disord | 1969 |
Cell population density and phenotypic expression of tissue culture fibroblasts from heterozygotes of Lesch-Nyhan's disease (inosinate pyrophosphorylase deficiency).
Topics: Adenine; Autoradiography; Cell Line; Culture Techniques; Female; Fibroblasts; Heterozygote; Humans; | 1969 |
[Familial encephalopathy with hyperuricemia. A study of purine metabolism and therapeutic attempts].
Topics: Brain Diseases; Child, Preschool; Electroencephalography; Follow-Up Studies; Gout; Humans; Infant; K | 1969 |
[Inborn hyperuricemia--an anomaly of uric acid metabolism in connection with psychomotor retardation, involuntary movements and self mutilation, Lesch-Nyhan syndrome].
Topics: Adolescent; Adult; Age Factors; Allopurinol; Child; Child, Preschool; Humans; Infant; Infant, Newbor | 1970 |
[Lesh-Nyhan syndrome. A congenital defect of purine metabolism with the clinical symptoms of gout and central nervous disorders].
Topics: Athetosis; Child, Preschool; Chorea; Compulsive Behavior; Erythrocytes; Female; Humans; Infant; Inte | 1970 |
Determination of urinary purines in hyperuricosuric children by thin-layer chromatography.
Topics: Allopurinol; Athetosis; Child; Child, Preschool; Chorea; Chromatography, Thin Layer; Densitometry; H | 1970 |
Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adult; Allopurinol; Athetosis; Carbon Isotopes; Child; Chorea; Compulsive Behavior; Deficiency Disea | 1970 |
The influence of adenine on the clinical features and purine metabolism in the Lesch-Nyhan syndrome.
Topics: Adenine; Allopurinol; Athetosis; Bone Marrow; Carbon Isotopes; Child; Child, Preschool; Chorea; Comp | 1970 |
The significance of the deficiency state in Lesch-Nyhan disease.
Topics: Allopurinol; Amino Acids; Athetosis; Carbon Isotopes; Child, Preschool; Chorea; Compulsive Behavior; | 1970 |
Biochemically marked lymphocytoid lines: establishment of Lesch-Nyhan cells.
Topics: Athetosis; Cell Line; Chorea; Compulsive Behavior; Culture Techniques; Humans; Hypoxanthines; Immuno | 1970 |
Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.
Topics: Adenine; Amniotic Fluid; Athetosis; Autoradiography; Basal Ganglia; Carbon Isotopes; Cerebellum; Cer | 1970 |
Diagnosis of Lesch-Nyhan syndrome by direct study of skin specimens.
Topics: Adenine; Adolescent; Adult; Aged; Child; Clinical Enzyme Tests; Erythrocytes; Female; Fibroblasts; G | 1970 |
Diagnosis of the Lesch-Nyhan syndrome.
Topics: Athetosis; Chorea; Compulsive Behavior; Humans; Intellectual Disability; Purines; Self Mutilation; T | 1970 |
Preliminary results from high-resolution analyses of ultraviolet-absorbing and carbohydrate constituents in several pathologic body fluids.
Topics: Adolescent; Adult; Alkaptonuria; Allopurinol; Amniotic Fluid; Athetosis; Carbohydrates; Chorea; Chro | 1970 |
A new assay method for hypoxanthine-guanine phosphoribosyltransferase.
Topics: Adenine; Adenine Nucleotides; Athetosis; Carbon Isotopes; Chorea; Chromatography; Compulsive Behavio | 1970 |
Prenatal diagnosis of genetic disorders by amniocentesis.
Topics: Adult; Amniotic Fluid; Athetosis; Chorea; Chromosome Aberrations; Chromosome Disorders; Compulsive B | 1970 |
The Lesch-Nyhan syndrome.
Topics: Adolescent; Aggression; Athetosis; Blood Specimen Collection; Child; Child Development; Chorea; Comp | 1970 |
The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome.
Topics: Adolescent; Athetosis; Child; Child, Preschool; Chorea; Compulsive Behavior; Female; Folic Acid; Hum | 1970 |
Lesch-Nyhan syndrome.
Topics: Allopurinol; Athetosis; Benzofurans; Brain; Child; Child, Preschool; Chorea; Compulsive Behavior; Er | 1970 |
Lesch-Nyhan syndrome: preventive control.
Topics: Athetosis; Chorea; Compulsive Behavior; Humans; Intellectual Disability; Purine-Pyrimidine Metabolis | 1970 |
Inborn terror of metabolism.
Topics: Athetosis; Chorea; Compulsive Behavior; Female; Humans; Intellectual Disability; Male; Pregnancy; Pu | 1970 |
Clinical and therapeutic aspects of the Lesch-Nyhan syndrome in Japanese children.
Topics: Allopurinol; Athetosis; Azathioprine; Benzofurans; Child; Child, Preschool; Guanine; Humans; Hypoxan | 1970 |
Alteration of purine control mechanisms in patients with the Lesch-Nyhan mutation.
Topics: Athetosis; Chorea; Compulsive Behavior; Diseases in Twins; Female; Humans; Infant, Newborn; Intellec | 1971 |
[Simple determination of purines by preparative thin-layer chromatography].
Topics: Athetosis; Chorea; Chromatography, Thin Layer; Compulsive Behavior; Diagnosis, Differential; Gout; H | 1971 |
Hyperuricosuria and central nervous system dysfunction.
Topics: Athetosis; Child; Child, Preschool; Female; Humans; Hypoxanthines; Lesch-Nyhan Syndrome; Male; Psych | 1967 |
Defects in purine metabolism and neurologic disease.
Topics: Brain; Cerebellum; Child; Glucosyltransferases; Gout; Hemorrhage; Humans; Male; Necrosis; Nervous Sy | 1968 |
Lesch-Nyhan syndrome treated from the early neonatal period.
Topics: Allopurinol; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Metabolism, Inborn Erro | 1968 |
X-linked primary hyperuricaemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy.
Topics: Allopurinol; Athetosis; Child; Genes, Recessive; Guanine Nucleotides; Humans; Hypoxanthines; Intelle | 1968 |
Congenital hyperuricosuria. Associated radiologic features.
Topics: Cerebral Palsy; Child; Finger Injuries; Gout; Hip Dislocation; Humans; Intellectual Disability; Male | 1968 |
Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout.
Topics: Adolescent; Adult; Age Factors; Aged; Cerebral Palsy; Child; Child, Preschool; Creatinine; Diet; Fem | 1968 |
[A hereditary disorder of purine metabolism with a cerebral affection and megaloblastic anemia (Lesch-Nyhan syndrome)].
Topics: Anemia, Macrocytic; Athetosis; Bone Marrow Examination; Child, Preschool; Humans; Infant; Male; Meta | 1968 |
X-linked uric aciduria with neurological disease and self-mutilation: diagnostic test for the enzyme defect.
Topics: Clinical Enzyme Tests; Glucosyltransferases; Humans; Methods; Nervous System Diseases; Purine-Pyrimi | 1968 |
[Familial encephalopathy with hyperuricemia. Study of purine metabolism. Therapeutic endeavors].
Topics: Adult; Brain Diseases; Child, Preschool; Humans; Infant; Intellectual Disability; Male; Purine-Pyrim | 1968 |
Molecular approaches to the central nervous system: AAAS Symposium 29-31 December 1968. Dallas, Texas.
Topics: Athetosis; Cerebral Palsy; Chorea; Glucosyltransferases; Humans; Intellectual Disability; Molecular | 1968 |
Mental retardation, self-mutilation and hyperuricemia in females.
Topics: Adult; Child; Child, Preschool; Female; Humans; Intellectual Disability; Self Mutilation; Uric Acid | 1968 |
Nyhan-Lesch syndrome and juvenile gout (2 cases).
Topics: Adult; Child, Preschool; Deficiency Diseases; Gout; Guanine; Humans; Hypoxanthines; Kidney Failure, | 1968 |
[Encephalopathy with disorders of purine metabolism. Familial case].
Topics: Adenosine Triphosphate; Allopurinol; Anemia; Brain Diseases; Carbon Isotopes; Child, Preschool; Eryt | 1968 |
Congenital hyperuricemia. An inborn error of purine metabolism associated with psychomotor retardation, athetosis, and self-mutilation.
Topics: Adenine; Allopurinol; Athetosis; Child, Preschool; Diet Therapy; Genes, Recessive; Humans; Male; Met | 1969 |
Causes of hyperuricaemia.
Topics: Diet; Female; Gout; Hematopoiesis; Humans; Intellectual Disability; Male; Metabolic Diseases; Purine | 1969 |
Hyperuricaemia: some biochemical aspects.
Topics: Adenine; Carbon Isotopes; Glycine; Humans; In Vitro Techniques; Intellectual Disability; Metabolic D | 1969 |
A method for the prenatal diagnosis of congenital hyperuricemia.
Topics: Amniotic Fluid; Female; Fetal Diseases; Gestational Age; Humans; Intellectual Disability; Methods; P | 1969 |
Juvenile gout with brain involvement.
Topics: Blood; Brain; Cerebral Palsy; Child; Demyelinating Diseases; Gout; Humans; Intellectual Disability; | 1965 |
A disorder of uric acid metabolism and cerebral function in childhood.
Topics: Central Nervous System Diseases; Child; Child, Preschool; Fingers; Humans; Infant; Intellectual Disa | 1965 |
Childhood hyperuricemia with brain disorder.
Topics: Athetosis; Brain Damage, Chronic; Child; Child, Preschool; Humans; Infant; Intellectual Disability; | 1965 |
Disordered uric acid metabolism and neurologic abnormalities.
Topics: Blood-Brain Barrier; Cerebral Palsy; Humans; Infant; Intellectual Disability; Male; Movement Disorde | 1966 |
Treatment of x-linked primary hyperuricemia with allopurinol.
Topics: Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Enzyme Therapy; Hematuria; Humans; M | 1966 |
X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.
Topics: Athetosis; Humans; Intellectual Disability; Male; Molecular Biology; Muscle Spasticity; Purine-Pyrim | 1966 |