uric acid has been researched along with Intellectual Disability in 121 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.
Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder presenting with uric acid overproduction, neurocognitive disability, and behavioral disturbances." | 7.96 | Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report. ( Jeon, S; Jung, SM; Lee, J, 2020) |
| "Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder presenting with uric acid overproduction, neurocognitive disability, and behavioral disturbances." | 3.96 | Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report. ( Jeon, S; Jung, SM; Lee, J, 2020) |
| "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) |
| "Activity of hypoxanthine-guanine and adenine phosphoribosyl transferase enzymes has been assayed in erythrocytes from 10 normal adults, 37 subjects with gout, and 21 mentally retarded children with high and normal urinary uric acid:creatinine ratios." | 3.65 | Phosphoribosyl transferase activity in normal subjects, gout patients, and children with mental retardation. ( Davison, AN; Eyre, C; Scott, JT, 1971) |
| "Clinically, adult with intellectual disability (ID) appear less physically fit than people without ID, yet formal endurance evaluation has not been reported previously." | 2.73 | Blood parameters in adults with intellectual disability at rest and after endurance exercise. ( Bachar, A; Carmeli, E; Merrick, J, 2008) |
| "As the life expectancy of people with intellectual disability (ID) increases, it is becoming necessary to understand factors affecting survival." | 1.39 | Predictors, including blood, urine, anthropometry, and nutritional indices, of all-cause mortality among institutionalized individuals with intellectual disability. ( Nakayama, T; Ohwada, H; Tomono, Y; Yamanaka, K, 2013) |
| "Urinary tract infections (UTIs) were detected in 65." | 1.39 | Urinary stone disease in the first year of life: is it dangerous? ( Alpay, H; Bıyıklı, N; Gokce, I; Özen, A, 2013) |
| "Clinically, adults with intellectual disability (ID) appear less physically fit than people without ID, yet formal endurance evaluation has not previously been reported." | 1.35 | Blood parameters in adults with intellectual disability at rest and after endurance exercise. ( Bachar, A; Carmeli, E; Merrick, J, 2009) |
| "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 | 110 (90.91) | 18.7374 |
| 1990's | 2 (1.65) | 18.2507 |
| 2000's | 6 (4.96) | 29.6817 |
| 2010's | 2 (1.65) | 24.3611 |
| 2020's | 1 (0.83) | 2.80 |
| Authors | Studies |
|---|---|
| Lee, J | 1 |
| Jung, SM | 1 |
| Jeon, S | 1 |
| Carmeli, E | 2 |
| Bachar, A | 2 |
| Merrick, J | 2 |
| Ohwada, H | 1 |
| Nakayama, T | 1 |
| Tomono, Y | 1 |
| Yamanaka, K | 1 |
| Alpay, H | 1 |
| Gokce, I | 1 |
| Özen, A | 1 |
| Bıyıklı, N | 1 |
| Kawasugi, K | 1 |
| Takeuchi, F | 1 |
| FULLER, RW | 1 |
| LUCE, MW | 1 |
| MERTZ, ET | 2 |
| LESCH, M | 2 |
| NYHAN, WL | 8 |
| APPLETON, MD | 1 |
| HAAB, W | 1 |
| CASEY, PJ | 1 |
| CASTELLINO, FJ | 1 |
| SCHORR, JM | 1 |
| MIRAGLIA, RJ | 1 |
| HEALEY, LA | 1 |
| HARRISON, M | 1 |
| DECKER, JL | 1 |
| HOEFNAGEL, D | 1 |
| Neychev, VK | 1 |
| Mitev, VI | 1 |
| Caldeira Araújo, H | 1 |
| Smit, W | 1 |
| Verhoeven, NM | 1 |
| Salomons, GS | 1 |
| Silva, S | 1 |
| Vasconcelos, R | 1 |
| Tomás, H | 1 |
| Tavares de Almeida, I | 1 |
| Jakobs, C | 1 |
| Duran, M | 1 |
| Inazu, T | 1 |
| Michener, WM | 1 |
| Marie, J | 1 |
| Royer, P | 1 |
| Rappaport, R | 1 |
| Howard, RS | 1 |
| Walzak, MP | 1 |
| Partington, MW | 1 |
| Hennen, BK | 1 |
| Gottlieb, RP | 1 |
| Koppel, MM | 1 |
| Bakay, B | 2 |
| Nissinen, E | 1 |
| Borden, M | 1 |
| Page, T | 1 |
| Grisar, 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 |
| Oster, O | 2 |
| Wiedemann, HR | 2 |
| Duley, IA | 1 |
| Simmonds, HA | 2 |
| McBride, MB | 1 |
| Oldigs, HD | 1 |
| Oppermann, HC | 1 |
| Chodorowski, Z | 1 |
| Natoński, A | 1 |
| Stuber, A | 1 |
| Paksi, A | 1 |
| Schneider, W | 1 |
| Morgenstern, E | 1 |
| Schindera, I | 1 |
| Webster, DR | 1 |
| Lingam, S | 1 |
| Wilson, J | 1 |
| Aukett, A | 1 |
| Bennett, MJ | 1 |
| Hosking, GP | 1 |
| Proctor, P | 1 |
| McGinness, JE | 1 |
| Dormoy, O | 1 |
| Ajzenberg, D | 1 |
| van der Zee, SP | 2 |
| Schretlen, ED | 2 |
| Monnens, LA | 1 |
| Beardmore, TD | 1 |
| Fox, IH | 2 |
| Kelley, WN | 6 |
| Reed, WB | 2 |
| Fish, CH | 1 |
| Rundle, AT | 1 |
| Fannin, CV | 1 |
| Pant, SS | 1 |
| Moser, HW | 1 |
| Krane, SM | 1 |
| Lis, AW | 1 |
| Bijan, R | 1 |
| Lis, EW | 1 |
| De Hackbeil, KF | 1 |
| Coburn, SP | 1 |
| Sirlin, EM | 1 |
| Lenoch, F | 1 |
| Kölle, G | 1 |
| Felix, JS | 1 |
| DeMars, R | 1 |
| Dawson, DM | 1 |
| Kekre, S | 1 |
| Singh, SD | 1 |
| Chhaparwal, BC | 1 |
| Pohowalla, JN | 1 |
| Rautenstrauch, T | 1 |
| Klebba, JT | 1 |
| Gershbein, LL | 1 |
| Marks, R | 1 |
| Wyngaarden, JB | 1 |
| McDonald, JA | 1 |
| Dancis, J | 5 |
| Yip, LC | 1 |
| Cox, RP | 3 |
| Piomelli, S | 1 |
| Balis, ME | 5 |
| Wada, Y | 3 |
| Nishimura, Y | 1 |
| Tanabu, M | 1 |
| Yoshimura, Y | 1 |
| Iinuma, K | 1 |
| Coleman, M | 1 |
| Landgrebe, M | 1 |
| Landgrebe, A | 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 |
| Wilson, JM | 1 |
| Kelly, S | 1 |
| Hart, EJ | 1 |
| Desjardins, L | 1 |
| Passwell, J | 1 |
| Zipperkowski, L | 1 |
| Katznelson, D | 1 |
| Szeinberg, A | 1 |
| Crispin, M | 1 |
| Pollak, S | 1 |
| Goodman, R | 1 |
| Bat-Miriam, M | 1 |
| Cohen, BE | 1 |
| Meigel, W | 1 |
| Braun-Falco, O | 1 |
| Lepercq, G | 1 |
| Poupinet, S | 1 |
| Steinschneider, R | 1 |
| Weiler, C | 1 |
| Leiber, B | 1 |
| Olbrich, G | 1 |
| Gruskin, AB | 1 |
| Patel, MS | 1 |
| Linshaw, M | 1 |
| Ettenger, R | 1 |
| Huff, D | 1 |
| Grover, W | 1 |
| Müller, MM | 1 |
| Stemberger, H | 1 |
| Sweetman, L | 2 |
| Claghorn, J | 1 |
| Neblett, C | 1 |
| Sutter, E | 1 |
| Farrell, G | 1 |
| Kraft, I | 1 |
| Seegmiller, JE | 6 |
| Wallace, DC | 1 |
| Thompson, CJ | 1 |
| Van Heeswijk, PJ | 1 |
| Blank, CH | 1 |
| Jacobson, CB | 1 |
| Greene, ML | 2 |
| Láhoda, F | 1 |
| Ross, A | 1 |
| Manzke, H | 2 |
| Harms, D | 1 |
| Dörner, K | 2 |
| Krauss, MR | 1 |
| Yoshida, T | 1 |
| Konno, T | 1 |
| Arakawa, T | 1 |
| Storey, B | 1 |
| Berman, PH | 3 |
| Jansen, V | 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 | 3 |
| 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 |
| Eyre, C | 1 |
| Davison, AN | 1 |
| Scott, JT | 2 |
| Benke, PJ | 1 |
| Marks, JF | 1 |
| Baum, J | 1 |
| Keele, DK | 1 |
| Kay, JL | 1 |
| MacFarlen, A | 1 |
| Dreifuss, FE | 2 |
| Shapiro, SL | 2 |
| Sheppard, GL | 2 |
| Becker, MH | 1 |
| Wallin, JK | 1 |
| Kaufman, JM | 1 |
| Labrune, B | 1 |
| Cartier, P | 1 |
| Bonnenfant, F | 1 |
| Ribierre, M | 1 |
| Mallet, R | 1 |
| Byrne, WL | 1 |
| Hooft, C | 1 |
| Van Nevel, C | 1 |
| De Schaepdryver, AF | 1 |
| Bazelon, M | 1 |
| Stevens, H | 1 |
| Davis, M | 1 |
| Green, M | 1 |
| Berger, R | 1 |
| Broyer, M | 1 |
| Rosenberg, D | 1 |
| Monnet, P | 1 |
| Mamelle, JC | 1 |
| Colombel, M | 1 |
| Salle, B | 1 |
| Bovier-Lapierre, M | 1 |
| James, JA | 1 |
| Teberg, AJ | 1 |
| Nelson, LG | 1 |
| Watts, RW | 1 |
| Sass, JK | 1 |
| Itabashi, HH | 1 |
| Dexter, RA | 1 |
| Dodge, PR | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| The Effects of Virtual Low-Tempo and High-Tempo Zumba® in Individuals With Developmental Disabilities on Functional Mobility, Aerobic Capacity, Inhibitory Control, Attention, and Balance[NCT05198232] | 57 participants (Actual) | Interventional | 2021-01-26 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
8 reviews available for uric acid and Intellectual Disability
| Article | Year |
|---|---|
[PRPP synthetase deficiency].
Topics: Diagnosis, Differential; Humans; Intellectual Disability; Prognosis; Purine-Pyrimidine Metabolism, I | 2003 |
[Lesh-Nyhan syndrome. Paralysis cerebralis hyperurinogenica].
Topics: Adolescent; Adult; Athetosis; Chemical Phenomena; Chemistry; Child; Compulsive Behavior; Female; Hum | 1970 |
Uric acid studies in serum and cerebrospinal fluid in neurological disorders with mental retardation.
Topics: Carbohydrate Metabolism, Inborn Errors; Central Nervous System Diseases; Cerebral Palsy; Child; Chil | 1971 |
Diagnosis and treatment of the Lesch-Nyhan syndrome.
Topics: Allopurinol; Amniocentesis; Athetosis; Brain; Erythrocytes; Fibroblasts; Humans; Intellectual Disabi | 1972 |
Current trends and problems in health screening.
Topics: Autoanalysis; Blood Glucose; Clinical Laboratory Techniques; Costs and Cost Analysis; Female; Humans | 1973 |
[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 |
3 trials available for uric acid and Intellectual Disability
| Article | Year |
|---|---|
Blood parameters in adults with intellectual disability at rest and after endurance exercise.
Topics: Adult; Body Mass Index; Creatine Kinase; Exercise Therapy; Exercise Tolerance; Female; Glutamine; Hu | 2008 |
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 |
The effect of drugs on hyperactivity in children with some observations of changes in mineral metabolism.
Topics: Acetazolamide; Adolescent; Amphetamine; Analysis of Variance; Child; Child, Preschool; Chlorides; Cl | 1971 |
110 other studies available for uric acid and Intellectual Disability
| Article | Year |
|---|---|
Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report.
Topics: Administration, Intravenous; Adolescent; Anesthesia Recovery Period; Anesthesia, General; Humans; Hy | 2020 |
Blood parameters in adults with intellectual disability at rest and after endurance exercise.
Topics: Adult; Biomarkers; Creatine Kinase; Exercise Tolerance; Glutamine; Humans; Intellectual Disability; | 2009 |
Predictors, including blood, urine, anthropometry, and nutritional indices, of all-cause mortality among institutionalized individuals with intellectual disability.
Topics: Adult; Aged; Anthropometry; Calcium; Cholesterol; Down Syndrome; Epilepsy; Female; Follow-Up Studies | 2013 |
Urinary stone disease in the first year of life: is it dangerous?
Topics: Cholelithiasis; Citrates; Cystic Fibrosis; Cystinuria; Epilepsy; Female; Genetic Predisposition to D | 2013 |
Serum uric acid in mongolism.
Topics: Asian People; Down Syndrome; Humans; Intellectual Disability; Male; Uric Acid | 1962 |
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
Topics: Athetosis; Biomedical Research; Blood Chemical Analysis; Central Nervous System Diseases; Cerebral P | 1964 |
ROLE OF VITAMIN A IN GAMMA GLOBULIN BIOSYNTHESIS AND URIC ACID METABOLISM OF MONGOLOIDS.
Topics: Blood; Body Fluids; Down Syndrome; gamma-Globulins; Intellectual Disability; Proteins; Purines; Rats | 1964 |
URICOSURIC EFFECT OF CHLORPROTHIXENE.
Topics: Biomedical Research; Blood; Chlorprothixene; Drug Therapy; Humans; Intellectual Disability; Mental D | 1965 |
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 |
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
Topics: Animals; Biochemistry; Brain; Humans; Hypoxanthine Phosphoribosyltransferase; Intellectual Disabilit | 2004 |
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
Topics: Abnormalities, Multiple; Adult; Alleles; Amino Acid Metabolism, Inborn Errors; Child; Creatinine; DN | 2005 |
A case of renal hypouricemia caused by urate transporter 1 gene mutations.
Topics: Adult; Base Sequence; Carrier Proteins; DNA; Female; Heterozygote; Humans; Intellectual Disability; | 2006 |
Hyperuricemia and mental retardation with athetosis and self-mutilation.
Topics: Allopurinol; Athetosis; Body Height; Body Weight; Child; Child, Preschool; Chorea; Humans; Infant; I | 1967 |
[Congenital hyperuricemia with neurologic, renal and blood disturbances].
Topics: Adolescent; Allopurinol; Anemia, Macrocytic; Athetosis; Chorea; Gout; Humans; Intellectual Disabilit | 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 |
Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Arginin | 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 |
Reduced renal excretion of uric acid in the hirsutism-skeletal dysplasia--mental retardation syndrome.
Topics: Abnormalities, Multiple; Adult; Bone and Bones; Hirsutism; Humans; Intellectual Disability; Kidney; | 1994 |
Hirsutism-skeletal dysplasia-mental retardation syndrome with abnormal face and a uric acid metabolism disorder.
Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Face; Follow-Up Studies; Hirsutism; Humans; I | 1993 |
[Alport's syndrome with mental retardation and purine metabolism disorders].
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Hearing Loss, Sensorineural; Humans; Intellectua | 1979 |
[Uric acid and creatinine index in healthy subjects and in the mentally retarded].
Topics: Adolescent; Age Factors; Child; Creatinine; Female; Humans; Intellectual Disability; Male; Sex Facto | 1976 |
[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 |
An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.
Topics: Deafness; Erythrocytes; Female; Guanosine Triphosphate; Humans; Infant; Infant, Newborn; Intellectua | 1985 |
Molybdenum co-factor deficiency: an easily missed inborn error of metabolism.
Topics: Aldehyde Oxidase; Aldehyde Oxidoreductases; Chromosome Aberrations; Chromosome Disorders; Coenzymes; | 1988 |
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 |
A survey of serum uric acid levels in mentally retarded patients.
Topics: Adolescent; Adult; Aged; Athetosis; Central Nervous System Diseases; Down Syndrome; Female; Humans; | 1966 |
Hyperuricemia in Down's syndrome.
Topics: Adolescent; Adult; Age Factors; Aged; Chemistry, Clinical; Child; Child, Preschool; Chromosome Aberr | 1968 |
Ultraviolet-absorbing urinary components of mentally retarded children and schizophrenic adults.
Topics: Adolescent; Adult; Autoanalysis; Child; Chromatography, Ion Exchange; Chromatography, Paper; Down Sy | 1968 |
Metabolism of N15 labeled uric acid in Down's syndrome.
Topics: Adult; Body Height; Body Surface Area; Body Weight; Chemistry, Clinical; Down Syndrome; Humans; Inte | 1968 |
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 |
[Lesch-Nyhan syndrome].
Topics: Allopurinol; Athetosis; Child; Compulsive Behavior; Diet Therapy; Humans; Huntington Disease; Intell | 1974 |
Correlation of bio-clinical parameters and intelligence in subjects with Down's syndrome and other retardates.
Topics: Adolescent; Adult; Alkaline Phosphatase; Blood Cell Count; Blood Proteins; Blood Sedimentation; Calc | 1974 |
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 |
Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.
Topics: Adolescent; Carbon Isotopes; Diphosphates; Epilepsy, Tonic-Clonic; Erythrocytes; Genotype; Glucoseph | 1973 |
Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.
Topics: Adenosine Triphosphate; Amides; Bone Marrow; Bone Marrow Cells; Erythrocytes; Glucosephosphate Dehyd | 1974 |
Progressive seizures with hyperuricosuria reversed by allopurinol.
Topics: Allopurinol; Anticonvulsants; Child; Child, Preschool; Electroencephalography; Humans; Infant; Intel | 1974 |
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 |
A new HGPRT-deficient phenotype?
Topics: Adolescent; Guanine; Humans; Hypoxanthines; Intellectual Disability; Male; Metabolism, Inborn Errors | 1972 |
A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Atrophy; Biopsy; Child; Consanguinity; Dermatoglyp | 1973 |
[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 |
[Urinary lithiasis revealing Lesch-Nyhan syndrome].
Topics: Allopurinol; Anemia; Anti-Bacterial Agents; Humans; Infant; Intellectual Disability; Lesch-Nyhan Syn | 1973 |
[Lesch-Nyhan syndrome].
Topics: Aggression; Athetosis; Bites, Human; Chorea; Glycine; Humans; Hyperlipidemias; Intellectual Disabili | 1973 |
Renal function studies and kidney pyruvate carboxylase in subacute necrotizing encephalomyelopathy (Leigh's syndrome).
Topics: Bicarbonates; Brain Stem; Chlorides; Encephalomalacia; Extracellular Space; Female; Glomerular Filtr | 1973 |
[Biochemical and immunological studies of hypoxanthine-guanine phosphoribosyltransferase in erythrocytes of Lesch-Nyhan patients (author's transl)].
Topics: Athetosis; Child; Clinical Enzyme Tests; Compulsive Behavior; Coombs Test; Erythrocytes; Guanine; Hu | 1974 |
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 |
Hypocupremic infant associated with mental retardation and hepatic cirrhosis: probably a copper malabsorption syndrome.
Topics: Amino Acids; Blood Glucose; Blood Proteins; Ceruloplasmin; Cholesterol; Copper; Electrolytes; Electr | 1969 |
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 |
A method for the prenatal diagnosis of the Lesch-Nyhan syndrome using fresh amniotic cells.
Topics: Amniotic Fluid; Athetosis; Chorea; Female; Fetal Diseases; Fetus; Gestational Age; Humans; Intellect | 1969 |
[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 |
Phosphoribosyl transferase activity in normal subjects, gout patients, and children with mental retardation.
Topics: Adenine; Adolescent; Adult; Child; Child, Preschool; Creatinine; Erythrocytes; Female; Gout; Guanine | 1971 |
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 |
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 |
[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 |
Hyperuricosuric encephalopathy without hyperuricaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Body Weight; Brain Diseases; Carbon Isotopes; Child, Preschool | 1968 |
Mental retardation, self-mutilation and hyperuricemia in females.
Topics: Adult; Child; Child, Preschool; Female; Humans; Intellectual Disability; Self Mutilation; Uric Acid | 1968 |
[Congenital hyperuricemia with neurologic disorders].
Topics: Allopurinol; Guanine; Humans; Hypoxanthines; Intellectual Disability; Kidney Diseases; Metabolism, I | 1968 |
[Encephalopathy with disorders of purine metabolism. Familial case].
Topics: Adenosine Triphosphate; Allopurinol; Anemia; Brain Diseases; Carbon Isotopes; Child, Preschool; Eryt | 1968 |
A new disorder of purine metabolism with behavioral manifestations.
Topics: Adenine; Allopurinol; Autistic Disorder; Carbon Isotopes; Child Behavior Disorders; Child, Preschool | 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 |
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 |