uric acid has been researched along with Inborn Errors of Metabolism in 118 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 |
|---|---|---|
| "THE CONCEPT OF AN ABNORMALITY OF GLUTAMINE METABOLISM IN PRIMARY GOUT WAS FIRST PROPOSED ON THE BASIS OF ISOTOPE DATA: when [(15)N]glycine was administered to gouty subjects, there was disproportionately great enrichment of N-(3 + 9) of uric acid, which derive from the amide-N of glutamine." | 7.65 | The kinetics of intramolecular distribution of 15N in uric acid after administration of (15N) glycine. A reappraisal of the significance of preferential labeling of N-(3+9) of uric acid in primary gout. ( Sperling, O; Starmer, CF; Wyngaarden, JB, 1973) |
| "Purine inborn errors of metabolism (IEM) are serious hereditary disorders, which should be suspected in any case of neonatal fitting, failure to thrive, recurrent infections, neurological deficit, renal disease, self-mutilation and other manifestations." | 6.44 | Uric acid changes in urine and plasma: an effective tool in screening for purine inborn errors of metabolism and other pathological conditions. ( Aquino Neto, FR; de Oliveira, ML; Gomes, LN; Oliveira, CP; Scalco, FB; Simoni, RE, 2007) |
| "THE CONCEPT OF AN ABNORMALITY OF GLUTAMINE METABOLISM IN PRIMARY GOUT WAS FIRST PROPOSED ON THE BASIS OF ISOTOPE DATA: when [(15)N]glycine was administered to gouty subjects, there was disproportionately great enrichment of N-(3 + 9) of uric acid, which derive from the amide-N of glutamine." | 3.65 | The kinetics of intramolecular distribution of 15N in uric acid after administration of (15N) glycine. A reappraisal of the significance of preferential labeling of N-(3+9) of uric acid in primary gout. ( Sperling, O; Starmer, CF; Wyngaarden, JB, 1973) |
| "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) |
| "Purine inborn errors of metabolism (IEM) are serious hereditary disorders, which should be suspected in any case of neonatal fitting, failure to thrive, recurrent infections, neurological deficit, renal disease, self-mutilation and other manifestations." | 2.44 | Uric acid changes in urine and plasma: an effective tool in screening for purine inborn errors of metabolism and other pathological conditions. ( Aquino Neto, FR; de Oliveira, ML; Gomes, LN; Oliveira, CP; Scalco, FB; Simoni, RE, 2007) |
| "Uric acid stone disease has a rich and fascinating medical history and probably is the oldest known stone disease." | 2.42 | Uric acid stone disease. ( Moran, ME, 2003) |
| "The allopurinol loading test has been traditionally used to differentiate between HX types I and II." | 1.42 | Modern diagnostic approach to hereditary xanthinuria. ( Bartl, J; Dolezel, Z; Fairbanks, L; Hurba, O; Marinaki, A; Mraz, M; Stiburkova, B, 2015) |
| "Hematuria was seen in 7 out of the 16 patients (44%), all of whom were females (58%)." | 1.30 | Hematuria in patients with renal hypouricemia. ( Hamada, N; Hiroe, K; Hisatome, I; Kato, T; Kinugawa, T; Manabe, I; Ogino, K; Ohtahara, A; Sato, R; Shigemasa, C; Shimoyama, M; Takeda, A; Tanaka, Y; Tsuboi, M; Yamamoto, Y; Yoshida, A, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 89 (75.42) | 18.7374 |
| 1990's | 13 (11.02) | 18.2507 |
| 2000's | 8 (6.78) | 29.6817 |
| 2010's | 6 (5.08) | 24.3611 |
| 2020's | 2 (1.69) | 2.80 |
| Authors | Studies |
|---|---|
| Miyazaki, S | 1 |
| Hamada, T | 1 |
| Sugihara, S | 1 |
| Mizuta, E | 1 |
| Endo, Y | 1 |
| Ohtahara, A | 2 |
| Komatsu, K | 1 |
| Kuwabara, M | 1 |
| Fukuuchi, T | 1 |
| Kaneko, K | 1 |
| Ichida, K | 1 |
| Ogino, K | 2 |
| Ninomiya, H | 1 |
| Yamamoto, K | 1 |
| Nakamura, T | 1 |
| Hisatome, I | 2 |
| Köksoy, AY | 1 |
| Görükmez, Ö | 1 |
| Dorum, S | 1 |
| Jasinge, E | 1 |
| Kularatnam, GAM | 1 |
| Dilanthi, HW | 1 |
| Vidanapathirana, DM | 1 |
| Jayasena, KLSPKM | 1 |
| Chandrasiri, NDPD | 1 |
| Indika, NLR | 1 |
| Ratnayake, PD | 1 |
| Gunasekara, VN | 1 |
| Fairbanks, LD | 1 |
| Stiburkova, B | 4 |
| Sebesta, I | 1 |
| Krijt, J | 2 |
| Mraz, M | 1 |
| Hurba, O | 1 |
| Bartl, J | 1 |
| Dolezel, Z | 1 |
| Marinaki, A | 1 |
| Fairbanks, L | 2 |
| Amin, R | 1 |
| Eid, L | 1 |
| Edvardsson, VO | 1 |
| Moudgil, A | 1 |
| Ouchi, M | 1 |
| Otani, N | 1 |
| Anzai, N | 1 |
| Jurecka, A | 1 |
| Gradowska, W | 1 |
| Tylki-Szymanska, A | 1 |
| Moran, ME | 1 |
| GUTMAN, AB | 4 |
| RAKIC, MT | 1 |
| VALKENBURG, HA | 1 |
| DAVIDSON, RT | 1 |
| ENGELS, JP | 1 |
| MIKKELSEN, WM | 1 |
| NEEL, JV | 1 |
| DUFF, IF | 1 |
| KRAWCZYNSKI, J | 1 |
| SAGAN, Z | 1 |
| WALAJTYS, E | 1 |
| ILOWIECKA, K | 1 |
| AYVAZIAN, JH | 1 |
| SKUPP, S | 1 |
| Tanaka, M | 1 |
| Itoh, K | 1 |
| Matsushita, K | 2 |
| Wakita, N | 1 |
| Adachi, M | 1 |
| Nonoguchi, H | 1 |
| Kitamura, K | 1 |
| Hosoyamada, M | 1 |
| Endou, H | 1 |
| Tomita, K | 1 |
| Tan, AH | 1 |
| Al-Omar, M | 1 |
| Denstedt, JD | 1 |
| Razvi, H | 1 |
| van Dael, CM | 1 |
| Pierik, LJ | 1 |
| Reijngoud, DJ | 1 |
| Niezen-Koning, KE | 1 |
| van Diggelen, OP | 1 |
| van Spronsen, FJ | 1 |
| Simoni, RE | 1 |
| Gomes, LN | 1 |
| Scalco, FB | 1 |
| Oliveira, CP | 1 |
| Aquino Neto, FR | 1 |
| de Oliveira, ML | 1 |
| Partington, MW | 1 |
| Hennen, BK | 1 |
| Meloni, FR | 1 |
| Canary, JJ | 1 |
| Sandhoff, K | 1 |
| Delevelle, F | 1 |
| Trombert, JC | 1 |
| Bouvier, MF | 1 |
| Canarelli, G | 1 |
| Matsumoto, M | 1 |
| Zhang, CH | 1 |
| Kosugi, C | 1 |
| Matsumoto, I | 1 |
| Wiedemann, HR | 1 |
| Oldigs, HD | 1 |
| Oppermann, HC | 1 |
| Oster, O | 1 |
| Barajas de Frutos, D | 1 |
| Bravo Mancheño, B | 1 |
| Palomino Urda, N | 1 |
| Pedrero Vera, J | 1 |
| Provoost, AP | 2 |
| Madern, GC | 2 |
| Sinaasappel, M | 3 |
| Terpstra, OT | 3 |
| Molenaar, JC | 2 |
| Wilcox, WD | 1 |
| Kocken, JM | 1 |
| Borel Rinkes, IH | 1 |
| Bijma, AM | 1 |
| de Roos, WK | 1 |
| Bouwman, E | 1 |
| Bonioli, E | 1 |
| DiStefano, A | 1 |
| Palmieri, A | 1 |
| Bertola, A | 1 |
| Bellini, C | 1 |
| Caruso, U | 1 |
| Fantasia, AR | 1 |
| Minniti, G | 1 |
| Dorche, C | 1 |
| Yurdakök, M | 1 |
| Coşkun, T | 1 |
| Benedetti, E | 2 |
| Kirby, JP | 1 |
| Asolati, M | 1 |
| Blanchard, J | 2 |
| Ward, MG | 1 |
| Williams, R | 1 |
| Hewett, TA | 1 |
| Fontaine, M | 1 |
| Pollak, R | 1 |
| Kamoun, A | 1 |
| Zghal, A | 1 |
| Daudon, M | 1 |
| Ben Ammar, S | 1 |
| Zerelli, L | 1 |
| Abdelmoula, J | 1 |
| Chaouachi, B | 1 |
| Houissa, T | 1 |
| Belkahia, C | 1 |
| Lakhoua, R | 1 |
| Tanaka, Y | 1 |
| Shimoyama, M | 1 |
| Hiroe, K | 1 |
| Tsuboi, M | 1 |
| Yamamoto, Y | 1 |
| Hamada, N | 1 |
| Kato, T | 1 |
| Manabe, I | 1 |
| Kinugawa, T | 1 |
| Yoshida, A | 1 |
| Shigemasa, C | 1 |
| Takeda, A | 1 |
| Sato, R | 1 |
| Mayaudon, H | 1 |
| Burnat, P | 1 |
| Eulry, F | 1 |
| Payen, C | 1 |
| Dupuy, O | 1 |
| Ducorps, M | 1 |
| Bauduceau, B | 1 |
| Dunn, TB | 1 |
| Kumins, NH | 1 |
| Raofi, V | 1 |
| Holman, DM | 1 |
| Mihalov, M | 1 |
| Law, WR | 1 |
| Rastellini, C | 1 |
| Kavukçu, S | 1 |
| Soylu, A | 1 |
| Sahin, B | 1 |
| Türkmen, M | 1 |
| Aydin, A | 1 |
| Dirik, E | 1 |
| Latini, A | 1 |
| Larovere, L | 1 |
| de Kremer, RD | 1 |
| Persaud, TV | 1 |
| Berry, HK | 2 |
| Watts, RW | 2 |
| Shapiro, I | 1 |
| Zöllner, N | 1 |
| Krízek, V | 1 |
| Arima, M | 1 |
| Rothuizen, J | 1 |
| Morita, J | 1 |
| Ito, Y | 1 |
| Yoshino, M | 1 |
| Koga, Y | 1 |
| Yano, S | 1 |
| Yoshida, I | 1 |
| Yamashita, F | 1 |
| Casas, E | 1 |
| Puig, JG | 1 |
| Mateos, FA | 1 |
| Jiménez, ML | 1 |
| Michán, AD | 1 |
| Ramos, TH | 1 |
| Kuo, SM | 1 |
| Austic, RE | 1 |
| Polinsky, MS | 1 |
| Kaiser, BA | 1 |
| Baluarte, HJ | 1 |
| Matsuo, M | 1 |
| Maeda, E | 1 |
| Nakamura, H | 1 |
| Saiki, K | 1 |
| Pennes, DR | 1 |
| Martel, W | 1 |
| Lagier, P | 1 |
| Tessonnier, JM | 1 |
| Collet, S | 1 |
| Lando, A | 1 |
| Divry, P | 1 |
| Vianet-Liaud, C | 1 |
| Desjacques, P | 1 |
| Bimar, J | 1 |
| Hervé, F | 1 |
| Berger, JP | 1 |
| Soulier, J | 1 |
| Proctor, P | 1 |
| McGinness, JE | 1 |
| Dormoy, O | 1 |
| Ajzenberg, D | 1 |
| Holtzman, NA | 1 |
| Fruhmann, G | 1 |
| Fritz, H | 1 |
| Bergstermann, H | 1 |
| Kaufman, JM | 2 |
| O'Brien, WM | 1 |
| Rundle, AT | 1 |
| Fannin, CV | 1 |
| Dancis, J | 3 |
| Yip, LC | 1 |
| Cox, RP | 1 |
| Piomelli, S | 1 |
| Balis, ME | 4 |
| de Vries, A | 2 |
| Sperling, O | 3 |
| Wyngaarden, JB | 1 |
| Starmer, CF | 1 |
| Smith, LH | 1 |
| Ferguson, RH | 1 |
| Worthington, JW | 1 |
| Fuss, M | 1 |
| Van Landuyt, P | 1 |
| Weiser, M | 1 |
| Fontinoy, N | 1 |
| Marcolongo, R | 1 |
| Debolini, A | 1 |
| Nyhan, WL | 2 |
| O'Sullivan, WJ | 1 |
| Boyle, JA | 2 |
| Fox, IH | 2 |
| Kelly, S | 1 |
| Hart, EJ | 1 |
| Desjardins, L | 1 |
| Itiaba, K | 1 |
| Banfalvi, M | 1 |
| Crawhall, JC | 1 |
| Frayha, RA | 1 |
| Salti, IS | 1 |
| Abu Haidar, GI | 1 |
| al-Khalidi, U | 1 |
| Hemady, K | 1 |
| Yu, TF | 2 |
| Meade, JC | 1 |
| Kelley, WN | 2 |
| Kolawole, TM | 1 |
| Bohrer, SP | 1 |
| Healey, LA | 1 |
| Skeith, MD | 1 |
| Simkin, PA | 1 |
| Blétry, O | 1 |
| Cartier, P | 1 |
| Hamet, M | 1 |
| Clauvel, JP | 1 |
| DeMars, R | 1 |
| Sarto, G | 1 |
| Felix, JS | 1 |
| Benke, P | 1 |
| Wada, Y | 1 |
| Kaplan, G | 1 |
| Seegmiller, JE | 3 |
| Delbarre, F | 1 |
| Holtzer, A | 1 |
| Auscher, C | 1 |
| Mertz, DP | 1 |
| Bourke, E | 1 |
| Frindt, G | 1 |
| Flynn, P | 1 |
| Schreiner, GE | 1 |
| Abdul-Karim, RW | 1 |
| Beydoun, SN | 1 |
| Sorensen, LB | 2 |
| Tesar, JT | 1 |
| Ellman, MH | 1 |
| Colwell, J | 1 |
| Granger, M | 1 |
| Preger, L | 1 |
| Sanders, GW | 1 |
| Gold, RH | 1 |
| Steinbach, HL | 1 |
| Pitman, P | 1 |
| Morgenroth, K | 1 |
| Backmann, R | 1 |
| Bergstresser, P | 1 |
| Weed, CL | 1 |
| Chalmers, RA | 1 |
| Johnson, M | 1 |
| Pallis, C | 1 |
| van der Zee, SP | 2 |
| Lommen, EJ | 1 |
| Trijbels, JM | 1 |
| Schretlen, ED | 2 |
| Ghadimi, H | 1 |
| Bhalla, CK | 1 |
| Kirchenbaum, DM | 1 |
| Frost, P | 1 |
| Weinstein, GD | 1 |
| Frank, M | 1 |
| Ophir, R | 1 |
| Liberman, UA | 1 |
| Adam, A | 1 |
| Eyre, C | 1 |
| Davison, AN | 1 |
| Scott, JT | 1 |
| Rondier, J | 1 |
| Manzke, H | 1 |
| Cifuentes Delatte, L | 1 |
| Castro-Mendoza, H | 1 |
| Berman, PH | 2 |
| Rosenbloom, FM | 1 |
| Miller, J | 1 |
| Stetten, D | 1 |
| Bradford, MJ | 1 |
| Krakoff, IH | 1 |
| Leeper, R | 1 |
| Marks, JF | 2 |
| Baum, J | 2 |
| Keele, DK | 1 |
| Kay, JL | 2 |
| MacFarlen, A | 1 |
| Taylor, W | 1 |
| Curry, L | 1 |
| Greene, ML | 1 |
| Monnens, LA | 1 |
| Kotzaurek, R | 1 |
| Hueber, EF | 1 |
| Berger, R | 1 |
| Broyer, M | 1 |
| Strejcek, J | 1 |
| Kucerová, L | 1 |
| Rosenberg, D | 1 |
| Monnet, P | 1 |
| Mamelle, JC | 1 |
| Colombel, M | 1 |
| Salle, B | 1 |
| Bovier-Lapierre, M | 1 |
| Weinstein, RL | 1 |
| Kliman, B | 1 |
| Scully, RE | 1 |
| Newcombe, DS | 1 |
| Shapiro, SL | 1 |
| Sheppard, GL | 1 |
| Dreifuss, FE | 1 |
19 reviews available for uric acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Uric acid stone disease.
Topics: Animals; Humans; Kidney Calculi; Metabolism, Inborn Errors; Uric Acid; Urinary Calculi | 2003 |
Ureteroscopy for pediatric urolithiasis: an evolving first-line therapy.
Topics: Adolescent; Age Factors; Apatites; Calcium Oxalate; Child; Child, Preschool; Cystine; Equipment Desi | 2005 |
Uric acid changes in urine and plasma: an effective tool in screening for purine inborn errors of metabolism and other pathological conditions.
Topics: Biomarkers; Diabetes Insipidus; Female; Humans; Kidney Diseases; Metabolism, Inborn Errors; Polycyst | 2007 |
Abnormal serum uric acid levels in children.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Diagnosis, Differential; Diagnostic Tests, | 1996 |
Prenatal diagnosis and its pathologic confirmation.
Topics: alpha-Fetoproteins; Amniocentesis; Amniotic Fluid; Chromosome Aberrations; Chromosome Disorders; Cre | 1976 |
Metabolic causes of renal stone formation.
Topics: Adenine Phosphoribosyltransferase; Cystinuria; Glycogen Storage Disease Type I; Humans; Hypoxanthine | 1977 |
[Inborn errors of metabolism and their significance in urology and nephrology].
Topics: Acidosis, Renal Tubular; Alkaptonuria; Cystinuria; Diabetes Insipidus; Female; Glycine; Gout; Humans | 1976 |
Urolithiasis in childhood.
Topics: Acidosis, Renal Tubular; Adult; Calcium; Child; Child, Preschool; Diet; Female; Humans; Hyperoxaluri | 1987 |
Dietary treatment of inborn errors of metabolism.
Topics: Ammonia; Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Female; Fructose; Galactosemias; Glyc | 1970 |
Symposium on renal lithiasis. Medical evaluation of urolithiasis. Etiologic aspects and diagnostic evaluation.
Topics: Acidosis, Renal Tubular; Bacterial Infections; Citrates; Crystallization; Cystinuria; Diphosphates; | 1974 |
Recent advances in rheumatic diseases: 1967 through 1969.
Topics: Arthritis; Arthritis, Infectious; Arthritis, Reactive; Arthritis, Rheumatoid; Behcet Syndrome; Colla | 1970 |
Views on the pathogenesis and management of primary gout--1971.
Topics: Adenosine Triphosphate; Arthritis; Enzyme Precursors; Gout; Guanine Nucleotides; Humans; Hypoxanthin | 1972 |
The Lesch-Nyhan syndrome.
Topics: Allopurinol; Animals; Brain; Chromosome Aberrations; Chromosome Disorders; Guanine; Humans; Hypoxant | 1973 |
Orotic acid.
Topics: Allopurinol; Anemia, Pernicious; Animals; Azauridine; Carboxy-Lyases; Fatty Liver; Female; Humans; I | 1973 |
Aetiology of gout.
Topics: Allopurinol; Creatinine; Diet Therapy; Erythrocytes; Gout; Humans; Hypoxanthines; Lesch-Nyhan Syndro | 1973 |
Purine ribonucleotide catabolism: clinical and biochemical significance. Review.
Topics: Adenosine Triphosphate; Allopurinol; Animals; Carbohydrate Metabolism, Inborn Errors; Fructose; Huma | 1974 |
Uric acid nephrolithiasis.
Topics: Adolescent; Aged; Allopurinol; Female; Humans; Hydrogen-Ion Concentration; Kidney Calculi; Male; Met | 1968 |
[Congenital disorder of purine metabolism].
Topics: Athetosis; Chorea; Compulsive Behavior; Humans; Intellectual Disability; Metabolism, Inborn Errors; | 1970 |
Selected aspects of the aetiology, pathogenesis and treatment of disorders of purine metabolism.
Topics: Allopurinol; Colchicine; Glycogen Storage Disease Type I; Gout; Humans; Lesch-Nyhan Syndrome; Metabo | 1971 |
99 other studies available for uric acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function.
Topics: Female; Humans; Metabolism, Inborn Errors; Middle Aged; Mutation; Uric Acid; Xanthine Dehydrogenase | 2022 |
Clinical significance of hypouricemia in children and adolescents.
Topics: Acidosis, Renal Tubular; Adolescent; Azotemia; Child; Humans; Metabolism, Inborn Errors; Renal Tubul | 2023 |
Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.
Topics: Child; Child, Preschool; Humans; Infant; Male; Mass Screening; Metabolic Networks and Pathways; Meta | 2017 |
Hereditary xanthinuria is not so rare disorder of purine metabolism.
Topics: Adult; Aldehyde Oxidase; Allopurinol; Child; Child, Preschool; Czech Republic; Diagnosis, Differenti | 2018 |
Modern diagnostic approach to hereditary xanthinuria.
Topics: Allopurinol; Child; Child, Preschool; Female; Humans; Male; Metabolism, Inborn Errors; Metabolomics; | 2015 |
An unusual cause of pink diapers in an infant: Questions and Answers.
Topics: Biomarkers; Color; Crystallization; Diapers, Infant; DNA Mutational Analysis; Genetic Predisposition | 2016 |
[Disturbance of uric acid metabolism].
Topics: Gout; Humans; Hyperuricemia; Kidney Diseases; Metabolism, Inborn Errors; Nucleic Acids; Renal Tubula | 2015 |
Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.
Topics: Aged; Allopurinol; Arthritis, Rheumatoid; Biomarkers; Chromatography, High Pressure Liquid; DNA Muta | 2010 |
SIGNIFICANCE OF THE RENAL CLEARANCE OF URIC ACID IN NORMAL AND GOUTY MAN.
Topics: Animals; Dogs; Fluids and Secretions; Glomerular Filtration Rate; Gout; Humans; Kidney Function Test | 1964 |
OBSERVATIONS ON THE NATURAL HISTORY OF HYPERURICEMIA AND GOUT. I. AN EIGHTEEN YEAR FOLLOW-UP OF NINETEEN GOUTY FAMILIES.
Topics: Adolescent; Blood; Cerebrovascular Disorders; Colorimetry; Coronary Disease; Esophageal and Gastric | 1964 |
INBORN ENZYMATIC DEFECT AS THE PROBABLE CAUSE OF THE FORMATION OF RENAL STONES CONSISTING OF URIC ACID.
Topics: Erythrocytes; Glutaminase; Humans; Kidney; Kidney Calculi; Kidney Tubules; Metabolism, Inborn Errors | 1965 |
THE STUDY OF PURINE UTILIZATION AND EXCRETION IN A XANTHINURIC MAN.
Topics: Adenine; Carbon Isotopes; Chromatography; Guanine; Humans; Hypoxanthines; Male; Metabolism, Inborn E | 1965 |
Two male siblings with hereditary renal hypouricemia and exercise-induced ARF.
Topics: Acute Kidney Injury; Adult; Back Pain; Carrier Proteins; Codon, Nonsense; Creatinine; Exercise; Exon | 2003 |
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.
Topics: Acute Kidney Injury; Adolescent; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Male; | 2007 |
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 |
Cystinuria with hyperuricemia.
Topics: Adult; Chromatography, Thin Layer; Cystine; Cystinuria; Female; Humans; Male; Metabolism, Inborn Err | 1967 |
[Molecular bases of congenital metabolic disorders].
Topics: Ascorbic Acid Deficiency; Biological Transport; Female; Gangliosidoses; Glucose-6-Phosphatase; Hemop | 1982 |
[Idiopatic renal hypouricemia (author's transl)].
Topics: Aged; Humans; Kidney; Male; Metabolism, Inborn Errors; Uric Acid | 1980 |
Gas chromatography-mass spectrometric studies of canine urinary metabolism.
Topics: Amino Acids; Animals; Creatinine; Diet, Protein-Restricted; Dog Diseases; Dogs; Female; Freeze Dryin | 1995 |
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 |
Familial hypouricaemia due to an isolated tubular defect of urate reabsorption.
Topics: Absorption; Adolescent; Adult; Child; Female; Humans; Kidney Tubules; Male; Metabolism, Inborn Error | 1993 |
Successful prolonged correction of an inborn metabolic defect by heterotopic auxiliary liver transplantation in a dog model.
Topics: Animals; Disease Models, Animal; Dogs; Liver; Liver Function Tests; Liver Transplantation; Metabolis | 1993 |
Correction of an inborn error of metabolism by intraportal hepatocyte transplantation in a dog model.
Topics: Animals; Bromodeoxyuridine; Cell Transplantation; Dogs; Feasibility Studies; Hemodynamics; Intraoper | 1996 |
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor.
Topics: Coenzymes; Female; Fibroblasts; Humans; Hypoxanthine; Infant; Metabolism, Inborn Errors; Metalloprot | 1996 |
Hypouricemia and molybdenum-cofactor deficiency.
Topics: Coenzymes; Humans; Infant, Newborn; Metabolism, Inborn Errors; Metalloproteins; Molybdenum Cofactors | 1997 |
Intrasplenic hepatocyte allotransplantation in dalmation dogs with and without cyclosporine immunosuppression.
Topics: Animals; Cell Transplantation; Cyclosporine; Dog Diseases; Dogs; Immunosuppressive Agents; Liver; Me | 1997 |
[Urinary calculi in children: contribution of anamnesis, biological exploration and physical analysis of calculi to the etiological diagnosis].
Topics: Adolescent; Analysis of Variance; Calcium; Child; Child, Preschool; Female; Humans; Infant; Male; Me | 1997 |
Hematuria in patients with renal hypouricemia.
Topics: Adult; Aged; Aged, 80 and over; Benzbromarone; Creatinine; Female; Hematuria; Humans; Kidney Disease | 1998 |
[Hereditary xanthinuria, rare cause of hypo-uric acidemia. 2 cases].
Topics: Adult; Aged; Chromosome Aberrations; Chromosome Disorders; Female; Genes, Recessive; Humans; Kidney | 1998 |
Multiple intrasplenic hepatocyte transplantations in the dalmatian dog.
Topics: Animals; Cell Survival; Cell Transplantation; Cryopreservation; Dogs; Liver; Liver Diseases; Metabol | 2000 |
Clinical quiz. Molybdenum cofactor deficiency.
Topics: Coenzymes; Encephalomalacia; Hematuria; Humans; Infant; Male; Metabolism, Inborn Errors; Metalloprot | 2000 |
Purines, lactate and myo-inositol in CSF might reflect excitotoxicity in inherited metabolic disorders.
Topics: Child; Child, Preschool; Glutamic Acid; Humans; Hypoxanthine; Infant; Inositol; Lactates; Metabolism | 2000 |
Screening for metabolic disorders among high risk infants and children.
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; Glycosaminoglyc | 1977 |
Observations on hyperuricaemia.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Male; Metabolism, Inborn Errors; Uric Acid | 1979 |
Nutritional aspects in the treatment of inborn errors.
Topics: Diet; Gout; Humans; Male; Metabolism, Inborn Errors; Nutritional Physiological Phenomena; Uric Acid | 1978 |
[Management of congenital enzyme abnormality].
Topics: Child, Preschool; Humans; Lesch-Nyhan Syndrome; Male; Metabolism, Inborn Errors; Uric Acid | 1977 |
Heterotopic liver transplantation corrects the inborn error of hepatic metabolism in a dog model.
Topics: Allantoin; Animals; Biomarkers; Cyclosporins; Disease Models, Animal; Dogs; Liver Transplantation; M | 1991 |
Persistent hyperkalaemia in vitamin B12 unresponsive methylmalonic acidaemia.
Topics: Child; Female; Glomerular Filtration Rate; Humans; Hyperaldosteronism; Hyperkalemia; Malonates; Meta | 1989 |
The allopurinol hypersensitivity syndrome: its relation to plasma oxypurinol levels.
Topics: Aged; Aged, 80 and over; Allopurinol; Drug Hypersensitivity; Humans; Male; Metabolism, Inborn Errors | 1989 |
Urate and p-aminohippurate transport in isolated kidney tubules of normal and hyperuricemic chickens.
Topics: Aminohippuric Acids; Animals; Chickens; In Vitro Techniques; Kidney Tubules; L-Lactate Dehydrogenase | 1987 |
Molybdenum cofactor deficiency: another inborn error of metabolism with neonatal onset.
Topics: Coenzymes; Humans; Infant, Newborn; Metabolism, Inborn Errors; Metalloproteins; Molybdenum Cofactors | 1988 |
Hyperuricemia and gout.
Topics: Adolescent; Age Factors; Arthritis; Arthrography; Bone Diseases; Child; Diagnosis, Differential; Fem | 1986 |
[Combined sulfite and xanthine oxidase deficiency due to an anomaly in the metabolism of molybdenum cofactor].
Topics: Coenzymes; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Metalloproteins; Molybdenum; Mo | 1986 |
[Sulfite and xanthine oxidase deficiency: a diagnosis based on 2 simple tests].
Topics: Coenzymes; Female; Humans; Infant; Metabolism, Inborn Errors; Metalloproteins; Methods; Molybdenum; | 1986 |
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 |
[Homozygous inherited alpha1-antitrypsin deficiency with emphysema of the lung, cor pulmonale, and gout (author's transl)].
Topics: Adult; alpha 1-Antitrypsin; Gout; Homozygote; Humans; Immunodiffusion; Male; Metabolism, Inborn Erro | 1974 |
Hyperuricemia in mongolism.
Topics: Adolescent; Body Weight; Child; Child, Preschool; Down Syndrome; Humans; Metabolism, Inborn Errors; | 1967 |
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 |
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 |
Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphate synthetase.
Topics: Adult; Allopurinol; Child; Child, Preschool; Diphosphates; Erythrocytes; Female; Gout; Humans; Infan | 1973 |
The kinetics of intramolecular distribution of 15N in uric acid after administration of (15N) glycine. A reappraisal of the significance of preferential labeling of N-(3+9) of uric acid in primary gout.
Topics: Adenosine Triphosphate; Adolescent; Adult; Carbon Isotopes; Glutamine; Glycine; Gout; Guanine; Hippu | 1973 |
[Prevention of renal lithiasis].
Topics: Calcium; Cystinuria; Diet; Gout; Humans; Kidney; Kidney Calculi; Kidney Failure, Chronic; Metabolism | 1974 |
[Incidence of partial deficiency of hypoxanthine-guanine phosphoribosyl-transferase in a gouty population. Study of the 1st affected Italian family].
Topics: Adult; Aged; Erythrocytes; Genes, Recessive; Gout; Heterozygote; Humans; Italy; Male; Metabolism, In | 1974 |
A new HGPRT-deficient phenotype?
Topics: Adolescent; Guanine; Humans; Hypoxanthines; Intellectual Disability; Male; Metabolism, Inborn Errors | 1972 |
Metabolism of purines in cultured normal and HPRT-deficient human fibroblasts.
Topics: Adenine; Adenosine Monophosphate; Age Factors; Carbon Isotopes; Cells, Cultured; Chromatography, Pap | 1973 |
Hereditary xanthinuria and xanthine urolithiasis: an additional 3 cases.
Topics: Adult; Child, Preschool; Female; Humans; Liver; Male; Metabolism, Inborn Errors; Middle Aged; Uric A | 1973 |
Hyperglutamatemia in primary gout.
Topics: Adult; Aged; Alanine; Ammonia; Chromatography; Fasting; Glutamates; Glutamine; Glycine; Gout; Humans | 1973 |
Adenine phosphoribosyltransferase deficiency in man. Report of a second family.
Topics: Adenine; Adenosine Triphosphate; Cells, Cultured; Chromosome Aberrations; Chromosome Disorders; Eryt | 1973 |
Tumoral calcinosis with "fluid levels" in the tumoral masses.
Topics: Alkaline Phosphatase; Body Fluids; Calcinosis; Calcium; Child; Cysts; Humans; Male; Metabolism, Inbo | 1974 |
Hypouricemia. An incidental finding indicating xanthinuria or defective reabsorption of uric acid.
Topics: Aged; Female; Humans; Kidney; Male; Metabolism, Inborn Errors; Middle Aged; Uric Acid; Xanthines | 1974 |
[Hyperuricemia due to hypoxanthine-guanine-phosphoribosyltransferase deficiency].
Topics: Adult; Allopurinol; Anemia; Arthritis; Benzofurans; Gout; Humans; Hyperlipidemias; Hypothyroidism; H | 1974 |
Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells.
Topics: Amniotic Fluid; Autoradiography; Culture Techniques; Diseases in Twins; Female; Fetal Diseases; Gest | 1969 |
[Clinical and biological aspects of dyspurinia with enzyme deficiency].
Topics: Adult; Allopurinol; Gout; Guanine; Humans; Hypoxanthines; Joint Diseases; Kidney Calculi; Metabolism | 1970 |
[Xanthine urinary lithiasis and xanthinuria in a dachshund. Deficiency, probably genetic, of the xanthine oxidase system].
Topics: Allantoin; Animals; Dogs; Infrared Rays; Metabolism, Inborn Errors; Purines; Spectrum Analysis; Ultr | 1969 |
[Pathogenesis and therapy of gout].
Topics: Allopurinol; Androsterone; Colchicine; Gout; Gymnastics; Humans; Indomethacin; Kinins; Long-Term Car | 1971 |
Primary hyperoxaluria with normal alpha-ketoglutarate: glyoxylate carboligase activity. Treatment with isocarboxazid.
Topics: Allopurinol; Child; Female; Glycolates; Glyoxylates; Humans; Isocarboxazid; Ketoglutaric Acids; Kidn | 1972 |
Amniotic fluid: the value of prenatal analysis. 1.
Topics: Acid-Base Equilibrium; Albumins; Amino Acids; Amniocentesis; Amniotic Fluid; Carbon Dioxide; Creatin | 1972 |
A new case of xanthinuria.
Topics: Adult; Diet Therapy; Humans; Hypoxanthines; Male; Metabolism, Inborn Errors; Uric Acid; Xanthines | 1972 |
Uric acid excretion in infants and children.
Topics: Adolescent; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Creatinine; Female; | 1971 |
Roentgenographic skeletal changes in the glycogen storage diseases.
Topics: Adolescent; Adult; Age Factors; Body Height; Bone and Bones; Child; Child, Preschool; Female; Glycog | 1969 |
[Comparative examinations of concrements of the human kidney by scanning electron microscopy].
Topics: Adult; Calcinosis; Crystallography; Gout; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infarc | 1969 |
Medical conference from the University of New Mexico School of Medicine. About gout.
Topics: Aged; Arthritis; Gout; Humans; Joints; Male; Metabolism, Inborn Errors; Uric Acid | 1969 |
Xanthinuria with myopathy (with some observations on the renal handling of oxypurines in the disease).
Topics: Adult; Allopurinol; Aminohippuric Acids; Electromyography; Humans; Hypoxanthines; Kidney Function Te | 1969 |
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 |
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 |
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis.
Topics: Adult; Aged; Allopurinol; Calculi; Erythrocytes; Genes, Recessive; Gout; Guanine; Heterozygote; Huma | 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 |
[Genetic problems concerning gout].
Topics: Adult; Aged; Female; Gout; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Uric Acid | 1971 |
[Hyperuricemia with cerebral paresis. Syndrome of a hereditary purine metabolic disorder].
Topics: Adolescent; Anemia, Macrocytic; Cerebral Palsy; Child; Child, Preschool; Glycine; Humans; Hyperlipid | 1967 |
[Familial xanthinuria].
Topics: Adolescent; Animals; Female; Humans; Male; Metabolism, Inborn Errors; Rats; Uric Acid; Urinary Calcu | 1967 |
Diagnostic test for congenital hyperuricemia with central nervous system dysfunction.
Topics: Carbon Isotopes; Central Nervous System Diseases; Erythrocytes; Glucosyltransferases; Humans; Hypoxa | 1968 |
An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adenine; Adolescent; Adult; Aged; Allopurinol; Child; Creatinine; Glucosyltransferases; Gout; Guanin | 1968 |
Basic sciences in medicine: the example of gout.
Topics: Allopurinol; Colchicine; Female; Gout; Humans; Male; Metabolism, Inborn Errors; Purines; Sex Factors | 1968 |
Study of purine metabolism in a xanthinuric female.
Topics: Arthritis; Carbon Isotopes; Creatinine; Female; Guanine; Humans; Hypoxanthines; Metabolism, Inborn E | 1968 |
Lesch-Nyhan syndrome treated from the early neonatal period.
Topics: Allopurinol; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Metabolism, Inborn Erro | 1968 |
Amniotic fluid concentrations of uric acid.
Topics: Amniotic Fluid; Female; Humans; Metabolism, Inborn Errors; Pregnancy; Umbilical Cord; Uric Acid | 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 |
[On clinical experiences with 2-ethyl-3(4-hydroxy-3,5-dibrombenzoyl)-benzofuran ("Benzbromaron") in the therapy of gout and hyperuricemia].
Topics: Adult; Aged; Benzofurans; Colchicine; Female; Gout; Humans; Male; Metabolism, Inborn Errors; Middle | 1968 |
[Congenital hyperuricemia with neurologic disorders].
Topics: Allopurinol; Guanine; Humans; Hypoxanthines; Intellectual Disability; Kidney Diseases; Metabolism, I | 1968 |
Idiopathic hyperlipemia and gout.
Topics: Cholesterol; Colorimetry; Diet Therapy; Dietary Carbohydrates; Dietary Fats; Fatty Acids, Nonesterif | 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 |
Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities.
Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenal Glands; Adult; Blindness; Body Heigh | 1969 |
Childhood hyperuricemia with brain disorder.
Topics: Athetosis; Brain Damage, Chronic; Child; Child, Preschool; Humans; Infant; Intellectual Disability; | 1965 |
Treatment of x-linked primary hyperuricemia with allopurinol.
Topics: Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Enzyme Therapy; Hematuria; Humans; M | 1966 |