uric acid has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 245 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 findings of raised levels of uric acid in plasma and urine at presentation in the third trimester of pregnancy, and the subsequent fall to almost undetectable levels 6 weeks post-partum, is regarded as evidence of the extent of fetal uric acid production and clearance by the maternal circulation." | 7.67 | Pregnancy in xanthinuria: demonstration of fetal uric acid production? ( Buckley, BM; Fisher, RA; Simmonds, HA; Spencer, RE; Stutchbury, JH; Webster, DR; Wooder, M, 1984) |
| "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) |
| "Treatment with allopurinol was associated to a mean reduction of serum urate concentration of 50%, and was normalized in all patients." | 5.33 | Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients. ( Prior, C; Puig, JG; Torres, RJ, 2006) |
| " PRS superactivity is an X-chromosome linked disorder, characterized by gout and uric acid overproduction resulting from accelerated synthesis of PRPP and purine nucleotides." | 4.79 | [PRPP synthetase superactivity]. ( Fujimori, S, 1996) |
| "The aims of this study were to evaluate the association between hypouricemia and cardiometabolic diseases, such as hypertension, dyslipidemia, and reduced kidney function, and to explore the sex-specific optimal range for serum uric acid (sUA) associated with the lowest risk for these diseases." | 4.31 | The Association Between Hypouricemia and Cardiometabolic Diseases: Analyzing Nationwide Data From Medical Checkup and Health Insurance Records. ( Kawakami, K; Koto, R; Kuwabara, M; Sato, I; Seki, T, 2023) |
| "An existing generalized mass action system model of human uric acid (UA) metabolism was used to formulate the fuzzy optimization method for detecting two types of enzymopathies: hyperuricemia caused by phosphoribosylpyrophosphate synthetase (PRPPS) overactivity and Lesch-Nyhan syndrome." | 3.79 | Fuzzy optimization for detecting enzyme targets of human uric acid metabolism. ( Hsu, KC; Wang, FS, 2013) |
| " Lymphopenia, reduced serum uric acid, and abnormal PNP enzymatic activity assist in the diagnosis of PNP-deficient patients." | 3.72 | Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency. ( Grunebaum, E; Roifman, CM; Zhang, J, 2004) |
| " The findings of raised levels of uric acid in plasma and urine at presentation in the third trimester of pregnancy, and the subsequent fall to almost undetectable levels 6 weeks post-partum, is regarded as evidence of the extent of fetal uric acid production and clearance by the maternal circulation." | 3.67 | Pregnancy in xanthinuria: demonstration of fetal uric acid production? ( Buckley, BM; Fisher, RA; Simmonds, HA; Spencer, RE; Stutchbury, JH; Webster, DR; Wooder, M, 1984) |
| "In the majority of patients with gout and excessive uric acid production, underlying enzyme abnormalities have not been identified." | 3.65 | Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction. ( Becker, MA, 1976) |
| "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 is a useful diagnostic tool as screening for most of purine metabolic disorders." | 2.39 | The importance of uric acid examination. ( Krijt, J; Schneiderka, P; Sebesta, I, 1994) |
| "Cardio-metabolic diseases and Parkinson's disease were more frequent in men with hypouricaemia than those without hypouricaemia." | 1.72 | Temporal trends in the prevalence and characteristics of hypouricaemia: a descriptive study of medical check-up and administrative claims data. ( Kawakami, K; Koto, R; Kuwabara, M; Sato, I; Seki, T, 2022) |
| "Allopurinol treatment was associated with a mean 74% reduction in urinary uric acid-to-creatinine ratio." | 1.34 | Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. ( Prior, C; Puig, JG; Torres, RJ, 2007) |
| " However, long-term use of PTD to replace enzymes in animal models or patients has not previously been described." | 1.33 | TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice. ( Grunebaum, E; Toro, A, 2006) |
| "Treatment with allopurinol was associated to a mean reduction of serum urate concentration of 50%, and was normalized in all patients." | 1.33 | Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients. ( Prior, C; Puig, JG; Torres, RJ, 2006) |
| "An 80-year-old man with squamous cell carcinoma of the parotid gland was noted to have persistent severe hypouricemia with serum uric acid values of 0." | 1.26 | Hypouricemia and malignant neoplasms. A new case of xanthinuria. ( Beck, LH; Mitnick, PD, 1979) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 189 (77.14) | 18.7374 |
| 1990's | 27 (11.02) | 18.2507 |
| 2000's | 17 (6.94) | 29.6817 |
| 2010's | 7 (2.86) | 24.3611 |
| 2020's | 5 (2.04) | 2.80 |
| Authors | Studies |
|---|---|
| Koto, R | 2 |
| Sato, I | 2 |
| Kuwabara, M | 2 |
| Seki, T | 2 |
| Kawakami, K | 2 |
| Yang, BY | 1 |
| Yu, HX | 1 |
| Min, J | 1 |
| Song, XX | 1 |
| Tanev, D | 1 |
| Peteva, P | 1 |
| Fairbanks, L | 2 |
| Marinaki, A | 1 |
| Ivanova, M | 1 |
| Alaikov, T | 1 |
| Shivarov, V | 1 |
| Biaz, A | 1 |
| Tazi, S | 1 |
| Bouhsain, S | 1 |
| Chemsi, M | 1 |
| Dami, A | 1 |
| Machtani-Idrissi, SE | 1 |
| Sebesta, I | 4 |
| Stiburkova, B | 3 |
| Krijt, J | 5 |
| Pavelcova, K | 1 |
| Petru, L | 1 |
| Hsu, KC | 1 |
| Wang, FS | 1 |
| Zhou, Y | 1 |
| Zhang, X | 1 |
| Ding, R | 1 |
| Li, Z | 1 |
| Hong, Q | 1 |
| Wang, Y | 1 |
| Zheng, W | 1 |
| Geng, X | 1 |
| Fan, M | 1 |
| Cai, G | 1 |
| Chen, X | 1 |
| Wu, D | 1 |
| Jurecka, A | 1 |
| Tylki-Szymanska, A | 1 |
| Zikanova, M | 1 |
| Kmoch, S | 1 |
| Singal, R | 1 |
| Krishnamurthy, S | 1 |
| Narayanan, P | 1 |
| Rajesh, NG | 1 |
| Choudhary, B | 1 |
| Jacomelli, G | 1 |
| Micheli, V | 1 |
| Yakubov, R | 1 |
| Nir, V | 1 |
| Kassem, E | 1 |
| Klein-Kremer, A | 1 |
| Fujimori, S | 4 |
| Tsutani, H | 1 |
| Takagi, K | 1 |
| Ichida, K | 3 |
| Taniguchi, A | 1 |
| Kawasugi, K | 1 |
| Takeuchi, F | 1 |
| Topping, NC | 1 |
| Cassels-Brown, A | 1 |
| Chakrabarty, A | 1 |
| Cronin, P | 1 |
| Ross, S | 1 |
| Russell, J | 1 |
| Tesha, P | 1 |
| PASERO, G | 2 |
| MASINI, G | 1 |
| FALLON, HJ | 1 |
| FREI, E | 1 |
| BLOCK, J | 1 |
| SEEGMILLER, JE | 16 |
| VERDU, R | 1 |
| CASDORPH, HR | 1 |
| LEWIS, M | 1 |
| WEISSMAN, SM | 1 |
| KARON, M | 1 |
| ENGELMAN, K | 1 |
| WATTS, RW | 2 |
| KLINENBERG, JR | 1 |
| SJOERDSMA, A | 1 |
| AYVAZIAN, JH | 1 |
| SKUPP, S | 1 |
| Yamamoto, T | 1 |
| Moriwaki, Y | 1 |
| Takahashi, S | 1 |
| Tsutsumi, Z | 1 |
| Tuneyoshi, K | 1 |
| Matsui, K | 1 |
| Cheng, J | 1 |
| Hada, T | 1 |
| PRAETORIUS, E | 1 |
| KIRK, JE | 1 |
| Grunebaum, E | 2 |
| Zhang, J | 1 |
| Roifman, CM | 1 |
| Kaneko, K | 2 |
| Yamanobe, T | 1 |
| Onoda, M | 1 |
| Mawatari, K | 1 |
| Nakagomi, K | 1 |
| Toro, A | 1 |
| Torres, RJ | 3 |
| Prior, C | 2 |
| Puig, JG | 6 |
| Simoni, RE | 1 |
| Gomes, LN | 1 |
| Scalco, FB | 1 |
| Oliveira, CP | 1 |
| Aquino Neto, FR | 1 |
| de Oliveira, ML | 1 |
| Balis, ME | 8 |
| Krakoff, IH | 2 |
| Berman, PH | 4 |
| Dancis, J | 6 |
| Sweetman, L | 4 |
| Nyhan, WL | 10 |
| Edwards, NL | 2 |
| Fox, IH | 11 |
| Simmonds, HA | 17 |
| Webster, DR | 5 |
| Wilson, J | 3 |
| Lingham, S | 1 |
| Potter, CF | 1 |
| Fairbanks, LD | 3 |
| Gutensohn, W | 1 |
| Perignon, JL | 2 |
| Cartier, P | 5 |
| Mousson, B | 1 |
| Baltassat, P | 2 |
| Stutchbury, JH | 1 |
| Spencer, RE | 1 |
| Fisher, RA | 1 |
| Wooder, M | 1 |
| Buckley, BM | 1 |
| Boulieu, R | 2 |
| Bory, C | 2 |
| Divry, P | 1 |
| Emori, T | 1 |
| Nagase, S | 1 |
| Pereg Macazaga, V | 1 |
| García Fernández, H | 1 |
| Regúlez, M | 1 |
| Elorza Olabegoya, JR | 1 |
| Beitia Martín, JJ | 1 |
| Vázquez García, JA | 1 |
| Nishioka, K | 2 |
| Yamanaka, H | 2 |
| Nishina, T | 2 |
| Hosoya, T | 2 |
| Mikanagi, K | 1 |
| Gibson, T | 1 |
| Waterworth, R | 1 |
| Hatfield, P | 1 |
| Robinson, G | 1 |
| Bremner, K | 1 |
| Wortmann, RL | 2 |
| Stapleton, FB | 2 |
| Nash, DA | 1 |
| Ullman, B | 1 |
| Wormsted, MA | 1 |
| Cohen, MB | 1 |
| Martin, DW | 1 |
| Pritchard, MH | 1 |
| Brault, D | 2 |
| Etienne, J | 1 |
| Ragot, J | 2 |
| Yonger, P | 1 |
| Laruelle, P | 1 |
| Gołabek, B | 1 |
| Borden, M | 1 |
| Kaufman, IA | 1 |
| Weitz, R | 1 |
| Sperling, O | 4 |
| Harley, EH | 1 |
| Adnams, CM | 1 |
| Steyn, LM | 1 |
| Barratt, TM | 2 |
| Sahota, A | 1 |
| Van Acker, KJ | 3 |
| Cameron, JS | 5 |
| Dillon, M | 1 |
| Kennedy, JH | 1 |
| Semmence, AM | 1 |
| Uzan, S | 1 |
| Beaufils, M | 1 |
| Donsimoni, R | 1 |
| Hallett, RJ | 1 |
| Cronin, SM | 1 |
| Morgan, G | 1 |
| Duley, JA | 2 |
| von Mühlendahl, KE | 1 |
| Herkenhoff, H | 1 |
| Chantin, C | 1 |
| McBride, MB | 4 |
| Hatfield, PJ | 1 |
| Graham, R | 1 |
| McCaskey, J | 1 |
| Jackson, M | 1 |
| Salerno, C | 2 |
| Crifò, C | 2 |
| Capuozzo, E | 1 |
| Giardini, O | 2 |
| Miranda, ME | 1 |
| Pavelka, K | 1 |
| Maly, J | 1 |
| Schneiderka, P | 1 |
| Iwahana, H | 1 |
| Itakura, M | 1 |
| Sumi, S | 1 |
| Wada, Y | 3 |
| Hisatome, I | 1 |
| Tsuboi, M | 1 |
| Shigemasa, C | 1 |
| Duran, M | 2 |
| Dorland, L | 1 |
| Meuleman, EE | 1 |
| Allers, P | 1 |
| Berger, R | 1 |
| Hughes, EF | 1 |
| Robinson, RO | 1 |
| Yoshida, M | 1 |
| Sakuma, R | 1 |
| Mateos, FA | 4 |
| Sancho, T | 1 |
| Buño, A | 1 |
| de Miguel, E | 1 |
| Gil, A | 1 |
| Togashi, R | 1 |
| Hakoda, M | 1 |
| Terai, C | 1 |
| Kashiwazaki, S | 1 |
| Dan, T | 1 |
| Kamatani, N | 2 |
| Ogg, CS | 1 |
| Rigden, S | 1 |
| Rees, L | 1 |
| Van 't Hoff, W | 1 |
| Moro, F | 1 |
| Raman, GV | 1 |
| Grahame, R | 1 |
| Marsh, FP | 1 |
| Celli, M | 1 |
| Finocchiaro, R | 1 |
| D'Eufemia, P | 1 |
| Iannetti, P | 1 |
| Torres Jiménez, R | 1 |
| Mateos Antón, F | 1 |
| Ramos Hernández, T | 1 |
| Arcas Martínez, J | 1 |
| Buño Soto, A | 1 |
| García Puig, J | 1 |
| Coşkun, T | 1 |
| Yetük, M | 1 |
| Yurdakök, M | 1 |
| Tekinalp, G | 1 |
| Mayaudon, H | 1 |
| Bauduceau, B | 1 |
| Dupuy, O | 1 |
| Ceppa, F | 1 |
| Roul, G | 1 |
| Burnat, P | 1 |
| Shcherbak, AV | 1 |
| Balkarov, IM | 1 |
| Kozlovskaia, LV | 1 |
| Podorol'skaia, LV | 1 |
| Gindis, AA | 1 |
| Baguette, C | 1 |
| Vermylen, C | 1 |
| Brichard, B | 1 |
| Louis, J | 1 |
| Dahan, K | 1 |
| Vincent, MF | 1 |
| Cornu, G | 1 |
| Andres, C | 1 |
| Kaminska, J | 1 |
| Mejias, E | 1 |
| Gelfand, E | 1 |
| Arnold, W | 1 |
| Rich, K | 1 |
| Proctor, PH | 1 |
| Kirkpatrick, DS | 1 |
| McGinness, JE | 1 |
| Mertz, DP | 2 |
| Becker, MA | 4 |
| Boss, GR | 1 |
| Stoop, JW | 1 |
| Zegers, BJ | 1 |
| Hendrickx, GF | 1 |
| van Heukelom, LH | 1 |
| Staal, GE | 1 |
| de Bree, PK | 2 |
| Wadman, SK | 2 |
| Ballieux, RE | 1 |
| Gelfand, EW | 1 |
| Biggar, D | 1 |
| Westberg, NG | 1 |
| Rosén, E | 1 |
| Waldenström, J | 1 |
| Morini, PL | 1 |
| Bandinelli, R | 1 |
| Curiel, P | 1 |
| Chodorowski, Z | 2 |
| Natoński, A | 1 |
| Rummelhardt, S | 1 |
| Zechner, O | 1 |
| Mitnick, PD | 1 |
| Beck, LH | 1 |
| Godin, M | 1 |
| Lebedev, VP | 1 |
| Boĭtsova, NA | 1 |
| Tsybysheva, AK | 1 |
| Zöllner, N | 3 |
| Goebel, FD | 1 |
| Gröbner, W | 1 |
| Weinberger, A | 2 |
| Benjamin, D | 1 |
| Pinkhas, J | 1 |
| de Vries, A | 3 |
| McBurney, A | 1 |
| Potter, C | 1 |
| Eyman, E | 1 |
| Kawenoki-Minc, E | 1 |
| Szmigiel, Z | 1 |
| Pawlicka, G | 1 |
| Sowa, M | 1 |
| Stĕpán, J | 1 |
| Blahos, J | 1 |
| Bunn, DN | 1 |
| Moss, IK | 1 |
| Nicholls, A | 1 |
| Scott, JT | 1 |
| Snaith, ML | 1 |
| Watson, MR | 1 |
| Christen, HJ | 1 |
| Hanefeld, F | 1 |
| Sastre Pascual, JF | 1 |
| Roca Villanueva, B | 1 |
| Arenas Jiménez, MD | 1 |
| Mengual Alarte, MJ | 1 |
| Zamora Navarro, S | 1 |
| Boronat Botella, M | 1 |
| Arenas Adarve, M | 1 |
| Kawachi, M | 2 |
| Kono, N | 2 |
| Mineo, I | 2 |
| Yamada, Y | 2 |
| Tarui, S | 2 |
| Williams, AW | 1 |
| Wilson, DM | 2 |
| Jiménez, ML | 2 |
| Ramos, TH | 2 |
| Melián, JS | 1 |
| Nieto, VG | 1 |
| Kanbayashi, T | 1 |
| Akaoka, I | 1 |
| Dillon, MJ | 1 |
| Meadow, SR | 1 |
| Trompeter, RS | 1 |
| Landaas, S | 1 |
| Borch, K | 1 |
| Aagaard, E | 1 |
| Pessano, B | 1 |
| Davì, S | 1 |
| La Brocca, A | 1 |
| Leone, L | 1 |
| Lingam, S | 1 |
| Morris, GS | 1 |
| Timms, P | 1 |
| Singh, B | 1 |
| Bold, A | 1 |
| Yip, LC | 1 |
| Xu, YL | 1 |
| Nishida, Y | 1 |
| Aukett, A | 1 |
| Bennett, MJ | 2 |
| Hosking, GP | 1 |
| Prandota, J | 1 |
| Sarul, H | 1 |
| Wołoszczuk, B | 1 |
| Kucewicz, L | 1 |
| Nowaczyk-Michalak, A | 1 |
| Balcar-Boroń, A | 1 |
| Maynard, J | 1 |
| Benson, P | 1 |
| Hara, N | 1 |
| Kiyokawa, H | 1 |
| Himeno, S | 1 |
| Miyazaki, T | 1 |
| Ciompi, ML | 1 |
| Bazzichi, L | 1 |
| Mariani, G | 1 |
| Kojima, T | 1 |
| Kitamura, M | 1 |
| Fabery de Jonge, H | 1 |
| Emmerson, BT | 5 |
| Carpenter, KH | 1 |
| Hill, PG | 1 |
| Astakhova, LN | 1 |
| Asanova, NK | 1 |
| Schröder, HE | 1 |
| Mank, H | 1 |
| Mende, T | 1 |
| Heinrich, JJ | 1 |
| Smith, LH | 1 |
| Beardmore, TD | 1 |
| Kelley, WN | 13 |
| Pant, SS | 1 |
| Moser, HW | 1 |
| Krane, SM | 1 |
| Kölle, G | 1 |
| Felix, JS | 1 |
| DeMars, R | 2 |
| Dawson, DM | 1 |
| Cayla, J | 1 |
| Rondier, J | 1 |
| Auscher, C | 5 |
| Perreau, C | 1 |
| de Gery, A | 4 |
| Rosenbloom, FM | 1 |
| Henderson, JF | 2 |
| Lesch, M | 2 |
| McDonald, JA | 1 |
| Bakay, B | 1 |
| Benke, PJ | 2 |
| Herrick, N | 1 |
| Hebert, A | 1 |
| Johnson, MG | 1 |
| Rosenweig, S | 1 |
| Switzer, RL | 1 |
| Holmes, EW | 2 |
| Mason, DH | 1 |
| Goldstein, LI | 1 |
| Blount, RE | 1 |
| Coleman, M | 2 |
| Landgrebe, M | 1 |
| Landgrebe, A | 1 |
| Wood, MH | 1 |
| Fox, RM | 1 |
| Vincent, L | 1 |
| Reye, C | 1 |
| O'Sullivan, WJ | 1 |
| Moldofsky, H | 1 |
| Tullis, C | 1 |
| Lamon, R | 1 |
| Rastegar, A | 1 |
| Thier, SO | 1 |
| Crawhall, JC | 1 |
| Saporta, L | 1 |
| Delbarre, F | 4 |
| Khachadurian, AK | 1 |
| Arslanian, MJ | 1 |
| Meigel, W | 1 |
| Braun-Falco, O | 1 |
| Meyer, LJ | 1 |
| Meade, JC | 1 |
| Thompson, L | 1 |
| Tapia, HR | 1 |
| Mercier, N | 1 |
| Pasquier, C | 1 |
| Oliver, I | 1 |
| Liberman, UA | 2 |
| Ramsdell, CM | 2 |
| Simkin, PA | 1 |
| Skeith, MD | 1 |
| Healey, LA | 1 |
| Postlethwaite, AE | 1 |
| Amor, B | 1 |
| Hamet, M | 1 |
| Cotton, RG | 1 |
| Camakaris, J | 1 |
| Danks, DM | 1 |
| Yü, TF | 1 |
| Krenitsky, TA | 1 |
| Silvers, DN | 1 |
| Elion, GB | 1 |
| Gutman, AB | 1 |
| Wallace, DC | 1 |
| Thompson, CJ | 1 |
| Tobias, PV | 1 |
| Arakawa, T | 1 |
| Yoshida, T | 1 |
| Konno, T | 1 |
| Honda, Y | 1 |
| Van Heeswijk, PJ | 1 |
| Blank, CH | 1 |
| Jacobson, CB | 1 |
| Greene, ML | 5 |
| McInnes, R | 1 |
| Lamm, P | 1 |
| Clow, CL | 1 |
| Scriver, CR | 1 |
| Manzke, H | 1 |
| Harms, D | 1 |
| Dörner, K | 1 |
| Algan, B | 1 |
| Boyle, JA | 2 |
| Salzmann, J | 1 |
| Benke, P | 1 |
| Kouvalainen, K | 1 |
| Cox, RP | 1 |
| Krauss, MR | 1 |
| Lagrue, G | 1 |
| Canlorbe, P | 1 |
| Busuttil, R | 1 |
| Labrune, B | 2 |
| Bonnenfant, F | 2 |
| Ribierre, M | 2 |
| Mallet, R | 2 |
| Kumar, S | 1 |
| Refsum, S | 1 |
| Kogut, MD | 1 |
| Donnell, GN | 1 |
| Kaiser, W | 1 |
| Jones, CE | 1 |
| Smith, EE | 1 |
| Hicks, W | 1 |
| Crowell, JW | 1 |
| Rosenberg, AL | 1 |
| Bergstrom, L | 1 |
| Troost, BT | 1 |
| Bartholomew, BA | 1 |
| Choi, KW | 1 |
| Bloom, AD | 1 |
| Monkus, ES | 1 |
| Fogel, BJ | 1 |
| Yankow, S | 1 |
| Raivio, KO | 1 |
| Astrin, KH | 1 |
| Schulman, JD | 1 |
| Graf, ML | 1 |
| Jacobsen, CB | 1 |
| Jolley, RL | 1 |
| Scott, CD | 1 |
| Chow, DC | 1 |
| Kawahara, FS | 1 |
| Saunders, T | 1 |
| Sorensen, LB | 1 |
| Sarto, GE | 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 |
| Frank, M | 1 |
| Munsat, TL | 1 |
| Klinenberg, J | 1 |
| Carell, RE | 1 |
| Menkes, J | 1 |
| Dreifuss, FE | 2 |
| Shapiro, SL | 2 |
| Sheppard, GL | 2 |
| Jansen, V | 1 |
| Kaufman, JM | 1 |
| Fujimoto, WY | 2 |
| Byrne, WL | 1 |
| Brouilhet, H | 1 |
| Olivier, JL | 1 |
| James, JA | 1 |
| Teberg, AJ | 1 |
| Nelson, LG | 1 |
| Antila, V | 1 |
| Elsilä, M | 1 |
| Blumberg, BS | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders[NCT04802707] | Phase 2 | 50 participants (Anticipated) | Interventional | 2021-10-18 | Recruiting | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
35 reviews available for uric acid and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
Topics: Asian People; Female; Genes, X-Linked; Gout; Humans; Hyperuricemia; Mutation, Missense; Purine-Pyrim | 2020 |
[Hypouricemia--definition and classification].
Topics: Carrier Proteins; Diagnosis, Differential; Humans; Kidney Tubules; Mutation; Organic Anion Transport | 2003 |
[Typing of hypouricemia (uric acid clearance)].
Topics: Allopurinol; Creatinine; Humans; Inappropriate ADH Syndrome; Kidney Diseases; Kidney Tubules; Losart | 2003 |
[Primary underproductive hypouricemia].
Topics: Allopurinol; Coenzymes; Diagnosis, Differential; Humans; Liver Diseases; Metalloproteins; Molybdenum | 2003 |
[PNP (purine nucleoside phosphorylase) deficiency].
Topics: Deoxyguanine Nucleotides; Diagnosis, Differential; Humans; Immune System Diseases; Mutation; Prognos | 2003 |
[PRPP synthetase deficiency].
Topics: Diagnosis, Differential; Humans; Intellectual Disability; Prognosis; Purine-Pyrimidine Metabolism, I | 2003 |
[Hereditary xanthinuria and molybdenum cofactor deficiency].
Topics: Coenzymes; Genes, Recessive; Humans; Metalloproteins; Molybdenum Cofactors; Mutation; Pteridines; Pu | 2003 |
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 |
Disorders associated with purine and pyrimidine metabolism.
Topics: 5'-Nucleotidase; Adenine Phosphoribosyltransferase; Adenosine Deaminase; AMP Deaminase; Gout; Guanin | 1984 |
Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.
Topics: Adenosine Deaminase; Adult; Child; Female; Gout; Humans; Hypoxanthine Phosphoribosyltransferase; Imm | 1980 |
Gout and pseudogout: crystal-induced arthropathies.
Topics: Calcium Pyrophosphate; Chondrocalcinosis; Crystallization; Diuretics; Ethanol; Glycogen Storage Dise | 1981 |
Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay.
Topics: Chickenpox; Child, Preschool; Developmental Disabilities; Female; Humans; Immunologic Deficiency Syn | 1994 |
Long-term course of neonatal diabetes.
Topics: Diabetes Mellitus; Female; Follow-Up Studies; Germany; Humans; Incidence; Infant; Infant, Newborn; M | 1995 |
The importance of uric acid examination.
Topics: Female; Gout; Humans; Hypoxanthine Phosphoribosyltransferase; Kidney; Male; Purine-Pyrimidine Metabo | 1994 |
[Inherited disorders of uric acid metabolism--classification, enzymatic- and DNA-diagnosis].
Topics: Adenosine Triphosphate; DNA; Humans; Hypoxanthine Phosphoribosyltransferase; Molecular Probe Techniq | 1996 |
[PRPP synthetase superactivity].
Topics: Gout; Humans; Phosphoribosyl Pyrophosphate; Proteins; Purine Nucleotides; Purine-Pyrimidine Metaboli | 1996 |
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency].
Topics: Central Nervous System Diseases; Coenzymes; Diagnosis, Differential; Diet Therapy; Humans; Infant, N | 1996 |
[Renal hypouricemia].
Topics: Acute Kidney Injury; Biological Transport; Kidney Tubules; Purine-Pyrimidine Metabolism, Inborn Erro | 1996 |
Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis.
Topics: Animals; Artifacts; Chromatography; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Py | 1997 |
Gout: new questions for an ancient disease.
Topics: Adult; Female; Gout; Humans; Kidney Failure, Chronic; Male; Microvascular Angina; Purine-Pyrimidine | 1998 |
[Theory of pathogenesis in primary hyperuricamia].
Topics: Adenosine Monophosphate; Adult; Child; Female; Glucosephosphates; Glycine; Gout; Humans; Kidney; Les | 1975 |
Uric acid metabolism in man.
Topics: Adenine Phosphoribosyltransferase; Adenosine; Adenosine Deaminase; Animals; Cells, Cultured; Gout; H | 1976 |
Hyperuricemia and gout. Classification, complications and management.
Topics: Acute Disease; Allopurinol; Arthritis; Aspirin; Colchicine; Coronary Disease; Diuretics; Gout; Human | 1979 |
2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone?
Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Diagnosis, Differentia | 1979 |
[Selected phsiopathological and clinical aspects of purine metabolism].
Topics: Alkalosis, Respiratory; Diabetes Mellitus; Diuresis; Female; Fructose Intolerance; Glomerular Filtra | 1976 |
Uric acid metabolism in humans.
Topics: Humans; Intestinal Mucosa; Kidney; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Radioisotop | 1990 |
[Current theories on various disorders of uric acid metabolism in the body].
Topics: Adult; Age Factors; Child; Female; Hematologic Diseases; Humans; Infant, Newborn; Kidney; Kidney Dis | 1987 |
Pyrimidine metabolism in man.
Topics: Amidohydrolases; Aminoisobutyric Acids; Aspartate Carbamoyltransferase; Bacteria; Carboxy-Lyases; Cy | 1973 |
Phosphoribosylpyrophosphate in man: biochemical and clinical significance.
Topics: Adenine; Adrenocorticotropic Hormone; Allopurinol; Animals; Glycogen; Gout; Humans; Lesch-Nyhan Synd | 1971 |
The physiologic approach to hyperuricemia.
Topics: Allopurinol; Gout; Humans; Kidney; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Uric Acid; | 1972 |
Diagnosis and treatment of the Lesch-Nyhan syndrome.
Topics: Allopurinol; Amniocentesis; Athetosis; Brain; Erythrocytes; Fibroblasts; Humans; Intellectual Disabi | 1972 |
Molecular variation in relation to purine metabolism.
Topics: Amidophosphoribosyltransferase; Chemical Phenomena; Chemistry; Glucosephosphate Dehydrogenase Defici | 1974 |
[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 Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
The influence of allopurinol on renal deterioration in familial nepropathy associated with hyperuricemia (FNAH). The Spanish Group for the Study of FNAH.
Topics: Adolescent; Adult; Aged; Allopurinol; Creatinine; Female; Follow-Up Studies; Humans; Hypertension; K | 1994 |
Treatment of gout and hyperuricaemia by benzbromarone, ethyl 2 (dibromo-3,5 hydroxy-4 benzoyl)-3 benzofuran.
Topics: Benzoates; Bromine; Clinical Trials as Topic; Creatinine; Gout; Humans; Hypoxanthines; Probenecid; P | 1974 |
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 |
207 other studies available for uric acid and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Temporal trends in the prevalence and characteristics of hypouricaemia: a descriptive study of medical check-up and administrative claims data.
Topics: Child; Female; Humans; Hypertension; Male; Parkinson Disease; Prevalence; Purine-Pyrimidine Metaboli | 2022 |
The Association Between Hypouricemia and Cardiometabolic Diseases: Analyzing Nationwide Data From Medical Checkup and Health Insurance Records.
Topics: Cross-Sectional Studies; Dyslipidemias; Female; Humans; Hypertension; Insurance, Health; Male; Purin | 2023 |
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria.
Topics: Aldehyde Oxidase; Antirheumatic Agents; Arthritis, Juvenile; Azathioprine; Bone Marrow Failure Disor | 2020 |
Fortuitous Discovery of Hereditary Xanthinuria.
Topics: Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xanthine | 2020 |
Hereditary xanthinuria is not so rare disorder of purine metabolism.
Topics: Adult; Aldehyde Oxidase; Allopurinol; Child; Child, Preschool; Czech Republic; Diagnosis, Differenti | 2018 |
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).
Topics: Adult; Aldehyde Oxidase; Female; Humans; Mercaptopurine; Methyltransferases; Polymorphism, Genetic; | 2018 |
Fuzzy optimization for detecting enzyme targets of human uric acid metabolism.
Topics: Algorithms; Diet; Drug Design; Drug Discovery; Fuzzy Logic; Humans; Hyperuricemia; Kinetics; Lesch-N | 2013 |
Purine disorders with hypouricemia.
Topics: Adolescent; Adult; Child; Female; Genetic Predisposition to Disease; Humans; Male; Purine-Pyrimidine | 2014 |
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria.
Topics: Adult; Aldehyde Oxidase; High-Throughput Nucleotide Sequencing; Humans; Male; Mutation; Purine-Pyrim | 2015 |
D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.
Topics: Adenosine; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Autistic Disorder; Blood Glucose; Chi | 2008 |
Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant.
Topics: Acute Kidney Injury; Fatal Outcome; Humans; Hyperuricemia; Hypoxanthine Phosphoribosyltransferase; I | 2012 |
[Asymptomatic classical hereditary xanthinuria type 1].
Topics: Arabs; Asymptomatic Diseases; Child, Preschool; Diet Therapy; Disease Management; Female; Humans; In | 2012 |
Uric acid crystals presenting as an orbital mass.
Topics: Adult; Crystallization; Humans; Magnetic Resonance Imaging; Male; Orbital Diseases; Purine-Pyrimidin | 2003 |
[Hypouricemia: study of a case of essential nephrotic hypouricemia].
Topics: Humans; Kidney; Kidney Diseases; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid | 1958 |
The uricosuria and orotic aciduria induced by 6-azauridine.
Topics: Antineoplastic Agents; Azauridine; Humans; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine | 1961 |
[HYPOURICEMIC ACTION OF COLCHICINE. IMPORTANCE OF URICEMIA IN GOUT].
Topics: Acid-Base Imbalance; Blood; Colchicine; Gout; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid | 1963 |
ACUTE URIC ACID NEPHROPATHY IN LEUKEMIA.
Topics: Acute Disease; Humans; Kidney Diseases; Leukemia; Purine-Pyrimidine Metabolism, Inborn Errors; Uric | 1964 |
STUDIES ON THE PSEUDOURIDINIURIA OF CHRONIC LYMPHOCYTIC LEUKEMIA.
Topics: Body Fluids; Carbon Isotopes; Fluids and Secretions; Humans; Leukemia; Leukemia, Lymphocytic, Chroni | 1964 |
CLINICAL, PHYSIOLOGICAL AND BIOCHEMICAL STUDIES OF A PATIENT WITH XANTHINURIA AND PHEOCHROMOCYTOMA.
Topics: Blood; Blood Group Antigens; Carbon Isotopes; Catecholamines; Electrophoresis; Humans; Jejunum; Kidn | 1964 |
THE STUDY OF PURINE UTILIZATION AND EXCRETION IN A XANTHINURIC MAN.
Topics: Adenine; Carbon Isotopes; Chromatography; Guanine; Humans; Hypoxanthines; Male; Metabolism, Inborn E | 1965 |
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II.
Topics: Adult; Aldehyde Oxidase; Allopurinol; Antimetabolites; DNA Primers; DNA, Complementary; Duodenum; Fe | 2003 |
Hypouricemia: with evidence for tubular elimination of uric acid.
Topics: Blood; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Water-Electrolyte Imbalance | 1950 |
Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.
Topics: CpG Islands; DNA, Complementary; Escherichia coli; Exons; Humans; Immunologic Deficiency Syndromes; | 2004 |
Analysis of urinary calculi obtained from a patient with idiopathic hypouricemia using micro area x-ray diffractometry and LC-MS.
Topics: Amino Acid Sequence; Calcium Oxalate; Chromatography, High Pressure Liquid; Defensins; Durapatite; H | 2005 |
TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.
Topics: Animals; Body Weight; Brain; CD4-Positive T-Lymphocytes; CD8-Positive T-Lymphocytes; Cell Count; Gen | 2006 |
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.
Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Follow-Up Studies; Humans; Hypoxanthine; Hy | 2006 |
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adolescent; Adult; Allopurinol; Antimetabolites; Child; Child, Preschool; Dose-Response Relationship | 2007 |
Urinary metabolites in congenital hyperuricosuria.
Topics: Allopurinol; Child; Child, Preschool; Humans; Hypoxanthines; Purine-Pyrimidine Metabolism, Inborn Er | 1967 |
Excretion of hypoxanthine and xanthine in a genetic disease of purine metabolism.
Topics: Allopurinol; Humans; Hypoxanthines; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xanthine | 1967 |
An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities.
Topics: Adenine Phosphoribosyltransferase; Adult; Child; Child, Preschool; Deafness; Female; Genetic Linkage | 1982 |
Evidence of a new syndrome involving hereditary uric acid over-production, neurological complications and deafness.
Topics: Clinical Laboratory Techniques; Deafness; Erythrocytes; Female; Humans; Infant, Newborn; Kinetics; M | 1984 |
Inherited disorders of purine metabolism--underlying molecular mechanisms.
Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; Gout; Humans; Hypoxanthine Phosphoribosyltra | 1984 |
[Hereditary anomalies of purine metabolism. Current biochemical aspects].
Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; Humans; Hypoxanthine Phosphoribosyltransfera | 1980 |
Metabolic basis for disorders of purine nucleotide degradation.
Topics: Adenosine Deaminase; Adenosine Monophosphate; Adenosine Triphosphate; AMP Deaminase; Anemia; Animals | 1981 |
Evidence of a new type of phosphoribosylpyrophosphate synthetase with abnormal kinetic properties in hyperuricemias.
Topics: Erythrocytes; Female; Humans; Kinetics; Male; Phosphotransferases; Purine-Pyrimidine Metabolism, Inb | 1984 |
Pregnancy in xanthinuria: demonstration of fetal uric acid production?
Topics: Adult; Female; Fetus; Humans; Hypoxanthine; Hypoxanthines; Middle Aged; Pregnancy; Pregnancy Complic | 1984 |
Hypoxanthine and xanthine concentrations determined by high performance liquid chromatography in biological fluids from patients with xanthinuria.
Topics: Adult; Chromatography, High Pressure Liquid; Erythrocytes; Female; Humans; Hypoxanthine; Hypoxanthin | 1984 |
[A problem on the uric acid value of rats for clinical evaluation].
Topics: Adenine; Allantoin; Animals; Humans; Male; Nucleic Acids; Purine-Pyrimidine Metabolism, Inborn Error | 1984 |
[Familial xanthinuria, 2 new cases].
Topics: Adult; Female; Humans; Middle Aged; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xanthine | 1984 |
Clinicobiochemical analysis of four cases of xanthine oxidase deficiency.
Topics: Adult; Aged; Female; Humans; Male; Middle Aged; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Ac | 1984 |
Hyperuricaemia in young New Zealand Maori men.
Topics: Adult; Age Factors; Ethnicity; Gout; Humans; Male; Middle Aged; Native Hawaiian or Other Pacific Isl | 1984 |
Limited value of uric acid to creatinine ratios in estimating uric acid excretion.
Topics: Adolescent; Adult; Child; Child, Preschool; Creatinine; Humans; Hypoxanthine Phosphoribosyltransfera | 1980 |
A screening test for hyperuricosuria.
Topics: Adolescent; Child; Child, Preschool; Glomerular Filtration Rate; Humans; Infant; Purine-Pyrimidine M | 1983 |
Purine oversecretion in cultured murine lymphoma cells deficient in adenylosuccinate synthetase: genetic model for inherited hyperuricemia and gout.
Topics: Adenylosuccinate Synthase; Animals; Cell Line; Gout; Ligases; Lymphoma; Mice; Neoplasms, Experimenta | 1982 |
[Routine urinary oxypurine assays for the detection of xanthine-oxidase deficiency (author's transl)].
Topics: Female; Hodgkin Disease; Humans; Hypoxanthines; Pregnancy; Purine-Pyrimidine Metabolism, Inborn Erro | 1982 |
[Urinary calculi in children].
Topics: Acidosis, Renal Tubular; Calcium; Child; Cystinuria; Humans; Hypercalcemia; Oxalates; Purine-Pyrimid | 1982 |
Renal pathogenesis of familial hyperuricemia: studies in two kindreds.
Topics: Adolescent; Ascorbic Acid; Humans; Kidney; Kidney Tubules; Male; Probenecid; Protein Binding; Purine | 1981 |
Hereditary renal hypouricemia. Isolated tubular defect of urate reabsorption.
Topics: Adolescent; Adult; Child; Child, Preschool; Consanguinity; Female; Humans; Male; Pedigree; Purine-Py | 1980 |
Kinetics of a HGPRT mutant showing substrate inhibition.
Topics: Adult; Erythrocytes; Fibroblasts; Humans; Hypoxanthine Phosphoribosyltransferase; Kinetics; Male; Mu | 1980 |
Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency.
Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Child, Preschool; Creatinine; Female; Humans; Kid | 1980 |
Xanthinuria: a new case.
Topics: Aspartate Aminotransferases; Female; Humans; Male; Middle Aged; Oxypurinol; Purine-Pyrimidine Metabo | 1980 |
Two successive pregnancies in a woman with xanthinuria: unexpected increase in serum uric acid levels.
Topics: Adult; Delivery, Obstetric; Female; Humans; Infant, Newborn; Postpartum Period; Pregnancy; Pregnancy | 1980 |
Abnormal purine and pyrimidine metabolism in inherited superactivity of PRPP synthetase.
Topics: Adenine Nucleotides; Allopurinol; Child; Erythrocytes; Female; Guanine Nucleotides; Humans; Hypoxant | 1994 |
Renal urate hypoexcretion in Polynesian women is not as severe as in United Kingdom (UK) women with familial juvenile hyperuricaemic nephropathy (FJHN).
Topics: Adult; Analysis of Variance; Creatinine; Female; Gout; Humans; Kidney Diseases; Middle Aged; Polynes | 1994 |
Anomalous response to intravenous fructose tolerance test in a case of deficit of adenylosuccinate lyase.
Topics: Adenosine Triphosphate; Adenylosuccinate Lyase; Aminoimidazole Carboxamide; Blood Glucose; Child; Fe | 1994 |
Familial juvenile hyperuricaemic nephropathy in adolescents.
Topics: Adolescent; Adult; Diagnosis, Differential; Erythrocytes; Female; Gout; Humans; Hypoxanthine Phospho | 1994 |
Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.
Topics: Age of Onset; Behavioral Symptoms; Brain; Child; Diagnosis, Differential; Family Relations; Female; | 1998 |
Two siblings with classical xanthinuria type 1: significance of allopurinol loading test.
Topics: Adult; Allopurinol; Humans; Male; Mutation; Oxypurinol; Purine-Pyrimidine Metabolism, Inborn Errors; | 1998 |
Optimal range of serum urate concentrations to minimize risk of gouty attacks during anti-hyperuricemic treatment.
Topics: Biomarkers; Confidence Intervals; Drug Monitoring; Gout; Gout Suppressants; Humans; Male; Purine-Pyr | 1998 |
Efficacy of allopurinol in ameliorating the progressive renal disease in familial juvenile hyperuricaemic nephropathy (FJHN). A six-year update.
Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Female; Follow-Up Studies; Gout Suppressant | 1998 |
How should we treat tophaceous gout in patients with allopurinol hypersensitivity?
Topics: Adolescent; Adult; Aged; Allopurinol; Benzbromarone; Creatinine; Drug Hypersensitivity; Gout; Gout S | 1998 |
Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase.
Topics: Adenylosuccinate Lyase; Adolescent; Aminoimidazole Carboxamide; Creatinine; Female; Humans; Purine-P | 1998 |
[Biochemical, enzymatic and genetic study of hypoxanthine guanine phosphoribosyl transferase (HPRT) deficiency].
Topics: Carrier State; Deficiency Diseases; Female; Fetal Diseases; Humans; Hypoxanthine Phosphoribosyltrans | 1998 |
Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency.
Topics: Coenzymes; Diagnosis, Differential; Fatal Outcome; Humans; Infant, Newborn; Male; Metalloproteins; M | 1998 |
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)].
Topics: Adult; Chromosome Mapping; Chromosomes, Human, Pair 2; Female; Humans; Male; Mutation; Purine-Pyrimi | 1999 |
[Urine fibrinolytic activity as an indicator of kidney damage in uric acid metabolic imbalance].
Topics: Adolescent; Adult; Creatinine; Female; Glomerular Filtration Rate; Gout; Humans; Kidney Diseases; Ma | 2001 |
Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.
Topics: Alternative Splicing; Amino Acid Substitution; Bone Marrow Transplantation; Chromosome Aberrations; | 2002 |
Purine nucleoside phosphorylase deficiency: biochemical properties and heterogeneity in two families.
Topics: Child; Child, Preschool; Chromatography, Gel; Erythrocytes; Humans; Hydrogen-Ion Concentration; Isoe | 1979 |
Superoxide-dismutase therapy in hyperuricaemic syndromes.
Topics: Animals; Anti-Inflammatory Agents; Dogs; Drug Evaluation; Humans; Metalloproteins; Purine-Pyrimidine | 1978 |
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.
Topics: Adenine Phosphoribosyltransferase; Adolescent; Adult; Cells, Cultured; Erythrocytes; Female; Fibrobl | 1976 |
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.
Topics: B-Lymphocytes; Electrophoresis; Female; Humans; Immunoelectrophoresis; Immunologic Deficiency Syndro | 1977 |
Partial deficiency of purine nucleoside phosphorylase: studies of purine and pyrimidine metabolism.
Topics: Adenosine Deaminase; Child; Erythrocytes; Guanosine; Humans; Immunologic Deficiency Syndromes; Inosi | 1978 |
Recessive X-linked hyperuricemia with gout and renal damage, normal activity of hypoxanthine phosphoribosyltransferase and resistance to azaguanine.
Topics: Adenine Phosphoribosyltransferase; Adolescent; Adult; Azaguanine; Azathioprine; Erythrocytes; Female | 1979 |
[Hypouricemia and xanthinuria. Observation of 3 cases].
Topics: Adult; Aged; Female; Humans; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xanthine | 1979 |
[Alport's syndrome with mental retardation and purine metabolism disorders].
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Hearing Loss, Sensorineural; Humans; Intellectua | 1979 |
[The evaluation of patients with urinary calculi discloses disturbances of metabolism in 75% of all cases (author's transl)].
Topics: Acidosis; Adult; Calcium; Cystinuria; Humans; Kidney Tubules; Male; Oxalates; Purine-Pyrimidine Meta | 1979 |
Hypouricemia and malignant neoplasms. A new case of xanthinuria.
Topics: Aged; Carcinoma, Squamous Cell; Humans; Male; Parotid Neoplasms; Purine-Pyrimidine Metabolism, Inbor | 1979 |
[Hypouricaemia (author's transl)].
Topics: Allopurinol; Fanconi Syndrome; Humans; Liver Diseases; Neoplasms; Purine-Pyrimidine Metabolism, Inbo | 1979 |
[Use of the uricosuric preparations and allopurinol in children with uratic nephropathies].
Topics: Adolescent; Allopurinol; Child; Child, Preschool; Drug Therapy, Combination; Humans; Nephritis; Puri | 1978 |
[Xanthinuria (author's transl)].
Topics: Adolescent; Adult; Child; Female; Humans; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Ac | 1978 |
Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma.
Topics: Adult; Gout; Humans; Hypoxanthine Phosphoribosyltransferase; Male; Middle Aged; Pheochromocytoma; Pu | 1978 |
Hereditary renal hypouricemia: heterogeneity of tubular abnormality.
Topics: Adult; Calcium; Female; Humans; Male; Middle Aged; Probenecid; Purine-Pyrimidine Metabolism, Inborn | 1978 |
Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child, Preschool; Diet; Humans; Male; Oroti | 1977 |
Complete deficiency of adenine phosphoribosyltransferase. Report of a family.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child; Child, Preschool; Crystallization; F | 1977 |
[Enzymopathies as a cause of hyperuricemia].
Topics: Adenine Phosphoribosyltransferase; Carbohydrate Metabolism; Feedback; Gout; Humans; Hypoxanthine Pho | 1977 |
[Clinical effects of purine metabolism disorders in hematopoietic proliferative diseases].
Topics: Acute Disease; Calcium; Chronic Disease; Gout; Humans; Leukemia; Polycythemia Vera; Potassium; Progn | 1976 |
[Deviations in purine metabolism].
Topics: Gout; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Uric Acid | 1975 |
New findings on inborn errors of the purine and pyrimidine metabolism.
Topics: Child; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid | 1975 |
Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adenine Phosphoribosyltransferase; Adolescent; Child; Child, Preschool; Diagnosis, Differential; Ele | 1975 |
Distinct neurological syndrome in two brothers with hyperuricaemia.
Topics: Abnormalities, Multiple; Child, Preschool; Face; Humans; Male; Purine-Pyrimidine Metabolism, Inborn | 1992 |
[The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria].
Topics: Aged; Aged, 80 and over; Diagnosis, Differential; Female; Humans; Hypoxanthines; Male; Middle Aged; | 1991 |
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria.
Topics: Adult; Creatinine; Female; Heterozygote; Humans; Hypoxanthines; Kinetics; Male; Pedigree; Purine-Pyr | 1990 |
Increased purine nucleotide degradation in the central nervous system (CNS) in PRPP synthetase superactivity.
Topics: Adolescent; Adult; Child; Child, Preschool; Deafness; Female; Humans; Hypoxanthines; Inosine; Male; | 1989 |
Renal handling of hypoxanthine and xanthine in normal subjects and in cases of idiopathic renal hypouricemia.
Topics: Adult; Chromatography, High Pressure Liquid; Humans; Hypoxanthines; Kidney; Kidney Diseases; Male; M | 1989 |
Purine enzyme defects as a cause of acute renal failure in childhood.
Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Adolescent; Child; Child, Preschool | 1989 |
A new case with hereditary xanthinuria: response to exercise.
Topics: Adult; Exercise; Humans; Hypoxanthines; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; | 1989 |
[Hereditary xanthinuria. A clinical case report].
Topics: Aged; Biopsy, Needle; Heart Failure; Humans; Hypoxanthines; Liver; Liver Diseases, Alcoholic; Male; | 1989 |
An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.
Topics: Deafness; Erythrocytes; Female; Guanosine Triphosphate; Humans; Infant; Infant, Newborn; Intellectua | 1985 |
Erythrocyte GTP depletion in PNP deficiency presenting with haemolytic anaemia and hypouricaemia.
Topics: Anemia, Hemolytic; Blood Platelets; Child, Preschool; Erythrocytes; Female; Guanosine Triphosphate; | 1986 |
Membrane-associated HPRTase activity in hyperuricemic and Lesch-Nyhan syndrome cells.
Topics: Cell Membrane; Erythrocyte Membrane; Female; Fibroblasts; Humans; Hypoxanthine Phosphoribosyltransfe | 1986 |
[Hypouricemia].
Topics: Fanconi Syndrome; Hepatolenticular Degeneration; Humans; Kidney; Purine-Nucleoside Phosphorylase; Pu | 1987 |
Molybdenum co-factor deficiency: an easily missed inborn error of metabolism.
Topics: Aldehyde Oxidase; Aldehyde Oxidoreductases; Chromosome Aberrations; Chromosome Disorders; Coenzymes; | 1988 |
[Hyperuricemia in various diseases in children].
Topics: Age Factors; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Meningitis; Pur | 1988 |
Hereditary xanthinuria in 2 Pakistani sisters: asymptomatic in one with beta-thalassemia but causing xanthine stone, obstructive uropathy and hypertension in the other.
Topics: Child, Preschool; Female; Humans; Hydronephrosis; Hypertension, Renal; Hypoxanthine; Hypoxanthines; | 1988 |
[A family of hereditary xanthinuria: two siblings with peptic ulcer and hypouricemia due to xanthine oxidase deficiency, and a heterozygote (father) with gout].
Topics: Adult; Gout; Heterozygote; Humans; Male; Peptic Ulcer; Purine-Pyrimidine Metabolism, Inborn Errors; | 1988 |
A new family with APRT partial deficiency: studies on purine and uric acid metabolism.
Topics: Adenine Phosphoribosyltransferase; Adolescent; Carbon Radioisotopes; Female; Humans; Male; Metabolic | 1986 |
Liquid chromatography with multichannel ultraviolet detection used for studying disorders of purine metabolism.
Topics: Adenine; Allopurinol; Chromatography, High Pressure Liquid; Humans; Hypoxanthine; Hypoxanthines; Ino | 1987 |
Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.
Topics: Adenosine; Adenylosuccinate Lyase; Adolescent; Aminoimidazole Carboxamide; Autoanalysis; Child; Chro | 1986 |
Effect of fructose infusion in hereditary xanthinuria.
Topics: Adult; Child; Consanguinity; Creatinine; Female; Fructose; Humans; Male; Purine-Pyrimidine Metabolis | 1986 |
How can one define urate over-production in man?
Topics: Glycine; Humans; Kinetics; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values; Uric Acid | 1986 |
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.
Topics: Adenine; Adenine Nucleotides; Adolescent; Adult; Female; Fructose; Guanosine; Humans; Hypoxanthine; | 1987 |
Asymptomatic xanthinuria detected as a result of routine analysis of serum for urate.
Topics: Adolescent; Adult; Female; Humans; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xan | 1985 |
[Borderline neuropsychiatric disorders in purine metabolism disorders in children].
Topics: Adolescent; Arthritis; Brain Diseases; Child; Child, Preschool; Disease Susceptibility; Female; Huma | 1985 |
[Behavior of serum acid levels in children in comparison with adults and the incidence of purine metabolism disorders and concomitant diseases in children of families with gout].
Topics: Adolescent; Adult; Child; Child, Preschool; Cholesterol; Female; Glomerular Filtration Rate; Gout; H | 1985 |
Allopurinol, purines, and pyrimidines.
Topics: Allopurinol; Diphosphates; Guanine; Humans; Hypoxanthines; Nucleotides; Purine-Pyrimidine Metabolism | 1971 |
Effect of allopurinol on pyrimidine metabolism in the Lesch-Nyhan syndrome.
Topics: Allopurinol; Athetosis; Child; Chorea; Compulsive Behavior; Humans; Intellectual Disability; Orotic | 1970 |
Hyperuricemia in Down's syndrome.
Topics: Adolescent; Adult; Age Factors; Aged; Chemistry, Clinical; Child; Child, Preschool; Chromosome Aberr | 1968 |
[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 |
[Gout and mongolism. Apropos of a case].
Topics: Adolescent; Down Syndrome; Gout; Humans; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Trisomy; | 1974 |
A specific enzyme defect in gout associated with overproduction of uric acid.
Topics: Adult; Diphosphates; Erythrocytes; Glucosyltransferases; Gout; Guanine; Hot Temperature; Humans; Hyp | 1967 |
The purine revolution.
Topics: Allopurinol; Diphosphates; Erythrocytes; Gout; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; | 1970 |
Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.
Topics: Athetosis; Child; Chorea; Compulsive Behavior; Diphosphates; Erythrocytes; Guanine; Humans; Hypoxant | 1971 |
Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.
Topics: Athetosis; Carbon Isotopes; Chromatography, Gel; Diphosphates; Electrophoresis, Disc; Enzyme Activat | 1972 |
Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.
Topics: Adolescent; Aminopterin; Azaguanine; Azaserine; Cells, Cultured; Culture Media; Erythrocytes; Fibrob | 1973 |
Evaluation of the role of 5-phosphoribosyl-alpha-1-pyrophosphate synthetase in congenital hyperuricemia and gout: a simple isotopic assay and an activity stain for the enzyme.
Topics: Cellulose; Chromatography, DEAE-Cellulose; Electrophoresis; Erythrocytes; Evaluation Studies as Topi | 1974 |
Xanthine oxidase deficiency: studies of a previously unreported case.
Topics: Adult; Allopurinol; Diet; Humans; Hypoxanthines; Intestinal Mucosa; Male; Organophosphorus Compounds | 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 |
Multiple tic syndrome (Giles de la Tourette's syndrome).
Topics: Adolescent; Adult; Child; Creatinine; Europe; Female; Guanine; Haloperidol; Humans; Hypoxanthines; I | 1974 |
Hypouricemia due to renal uricosuria. A case study.
Topics: Colorimetry; Creatinine; Heterozygote; Homozygote; Humans; Kidney Tubules; Male; Middle Aged; Phosph | 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 |
Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity.
Topics: Adolescent; Adult; Carbon Isotopes; Child; Erythrocytes; Female; Fibroblasts; Glycine; Gout; Guanine | 1973 |
Adenine phosphoribosyltransferase deficiency in man. Report of a second family.
Topics: Adenine; Adenosine Triphosphate; Cells, Cultured; Chromosome Aberrations; Chromosome Disorders; Eryt | 1973 |
The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adolescent; Adult; Aged; Clinical Enzyme Tests; Erythrocytes; Humans; Lesch-Nyhan Syndrome; Male; Mi | 1973 |
Urate metabolism in heterozygotes for HGPRTase deficiency.
Topics: Adult; Aged; Body Weight; Carbon Radioisotopes; Creatinine; Erythrocytes; Glycine; Gout; Guanine Nuc | 1973 |
Adenine phosphoribosyltransferase deficiency: report of a second family.
Topics: Adenine; Adenosine Triphosphate; Creatinine; Drug Stability; Erythrocytes; Female; Fibroblasts; Fruc | 1973 |
Xanthinuria in a large kindred.
Topics: Adult; Aged; Calculi; Female; Heterozygote; Humans; Kidney Diseases; Male; Middle Aged; Pedigree; Pu | 1973 |
Allopurinol and thiopurinol: effect in vivo on urinary oxypurine excretion and rate of synthesis of their ribonucleotides in different enzymatic deficiencies.
Topics: Adenine; Allopurinol; Erythrocytes; Female; Gout; Guanine; Humans; Hypoxanthines; Lesch-Nyhan Syndro | 1974 |
Hypouricemia, hypercalciuria and decreased bone density. A new hereditary syndrome.
Topics: Bone and Bones; Calcium; Child; Child, Preschool; Female; Humans; Kidney Tubules; Male; Middle Aged; | 1974 |
The clinical significance of hypouricemia.
Topics: Allopurinol; Amino Acids; Aspirin; Autoanalysis; Creatinine; Glycosuria; Humans; Kidney Diseases; Ne | 1974 |
Suppression of uric acid secretion in a patient with renal hypouricemia.
Topics: Circadian Rhythm; Creatinine; Female; Humans; Kidney Diseases; Middle Aged; Probenecid; Purine-Pyrim | 1974 |
Reevaluation of the pyrazinamide suppression test.
Topics: Evaluation Studies as Topic; Glomerular Filtration Rate; Male; Methods; Probenecid; Purine-Pyrimidin | 1974 |
Uricosuric effect of an anticholinergic agent in hyperuricemic subjects.
Topics: Creatinine; Cyclohexanes; Glycopyrrolate; Gout; Humans; Parasympatholytics; Propanolamines; Purine-P | 1974 |
Pathophysiology of purine metabolism in man.
Topics: Adenosine; Alkaline Phosphatase; Amidinotransferases; Amidohydrolases; Glomerular Filtration Rate; G | 1974 |
Gout with adenine phosphoribosyl transferase deficiency.
Topics: Adenine; Adolescent; Adult; Aged; Allopurinol; Carbon Radioisotopes; Child; Child, Preschool; Chromo | 1974 |
A screening test for urinary purines and pyrimidines and related compounds using auxotrophic mutants of Escherichia coli K12.
Topics: Adenine; Alanine; Aspartic Acid; Biological Assay; Carbamates; Child; Chromatography, Paper; Cytosin | 1970 |
[Pathogenesis and therapy of gout].
Topics: Allopurinol; Androsterone; Colchicine; Gout; Gymnastics; Humans; Indomethacin; Kinins; Long-Term Car | 1971 |
Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.
Topics: Adult; Aged; Erythrocytes; Female; Gout; Guanine; Humans; Hypoxanthines; Kidney Calculi; Male; Middl | 1972 |
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 |
Some genetical aspects of hyperuricaemia and xanthinuria.
Topics: Gout; Humans; Lesch-Nyhan Syndrome; Purine-Pyrimidine Metabolism, Inborn Errors; Sex Factors; Uric A | 1972 |
Defect of incorporation of glycine-1- 14 C into urinary uric acid in formiminotransferase deficiency syndrome.
Topics: Adult; Amino Acids; Carbon Isotopes; Creatinine; Folic Acid; Formates; Glycine; Humans; Liver; Male; | 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 |
A filter paper sampling method for the uric acid:creatinine ratio in urine. Normal values in the the newborn.
Topics: Aging; Creatinine; Female; Filtration; Humans; Infant, Newborn; Male; Mass Screening; Methods; Paper | 1972 |
[Treatment of congenital hyperuricemia].
Topics: Adolescent; Allopurinol; Athetosis; Child; Humans; Hypoxanthines; Intellectual Disability; Lesch-Nyh | 1971 |
[Action of 8 129 CB (urate oxidase) on retinal manifestations of hyperuricemia].
Topics: Aged; Female; Humans; Ophthalmoscopy; Purine-Pyrimidine Metabolism, Inborn Errors; Retinal Degenerat | 1971 |
Alterations in the activity of hypoxanthine and adenine phosphoribosyltransferase in patients with hyperuricaemia and gout.
Topics: Adenine; Adult; Erythrocytes; Gout; Humans; Hypoxanthines; Lesch-Nyhan Syndrome; Pentosyltransferase | 1971 |
Reversal of organic brain syndrome with seizures and hyperuricosuria subsequent to allopurinol therapy.
Topics: Allopurinol; Brain Damage, Chronic; Child; Electroencephalography; Humans; Male; Purine-Pyrimidine M | 1971 |
Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.
Topics: Autoradiography; Clone Cells; Female; Heterozygote; Humans; Hypoxanthines; In Vitro Techniques; Male | 1968 |
[Hyperuricemia in leukemia].
Topics: Adolescent; Adrenal Cortex Hormones; Blood Cell Count; Female; Humans; Leukemia, Lymphoid; Purine-Py | 1969 |
Metabolic aberrations in gout.
Topics: Female; Glycogen Storage Disease Type I; Gout; Humans; Kidney; Kidney Calculi; Kidney Diseases; Male | 1970 |
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 |
[Apparently primary kidney disease revealing latent error of purine metabolism in 2 adolescents].
Topics: Adolescent; Adult; Allopurinol; Diet Therapy; Diet, Sodium-Restricted; Diuretics; Gout; Humans; Kidn | 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 |
[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 |
A possible role of guanine-deaminase inhibitor.
Topics: Aminohydrolases; Guanine; Humans; Liver; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Uri | 1970 |
[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 |
Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.
Topics: Adolescent; Adult; Carbon Isotopes; Child; Child, Preschool; Female; Glucosyltransferases; Glutamina | 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 |
Hyperuricemia and neurologic deficits. A family study.
Topics: Adult; Ataxia; Deafness; Erythrocytes; Female; Humans; Kidney Diseases; Kidney Function Tests; Male; | 1970 |
Biochemically marked lymphocytoid lines: establishment of Lesch-Nyhan cells.
Topics: Athetosis; Cell Line; Chorea; Compulsive Behavior; Culture Techniques; Humans; Hypoxanthines; Immuno | 1970 |
Concentrations of uric acid in the serum of neonatal infants and their mothers.
Topics: Delivery, Obstetric; Female; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Physical Examin | 1970 |
Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.
Topics: Adenine; Amniotic Fluid; Athetosis; Autoradiography; Basal Ganglia; Carbon Isotopes; Cerebellum; Cer | 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 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 |
[Inhibition of endogenous uric acid synthesis with allopurinol in gout and urate diathesis. Remarks on E. Holländer and P. Schwarczmann, Münch. Med. Wschr. 3 (1969) 32, 1623-1626].
Topics: Allopurinol; Gout; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Urate Oxidase; Uric Acid | 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 |
Xanthinuria: an additional case with demonstration of xanthine oxidase deficiency.
Topics: Adult; Biopsy; Female; Humans; Hypoxanthines; Intestinal Mucosa; Jejunum; Male; Purine-Pyrimidine Me | 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 |
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 |
X-linked primary hyperuricaemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy.
Topics: Allopurinol; Athetosis; Child; Genes, Recessive; Guanine Nucleotides; Humans; Hypoxanthines; Intelle | 1968 |
Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.
Topics: Autoradiography; Female; Genes; Heterozygote; Humans; Hypoxanthines; Lymphocytes; Male; Molecular Bi | 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 |
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 |
[Treatment of gouty purine metabolism disorder with mercapto-pyrazolo-pyrimidine (thiopurinol)].
Topics: Allopurinol; Calculi; Drug Tolerance; Female; Gout; Guanine Nucleotides; Humans; Male; Purine-Pyrimi | 1968 |
Urinary xanthine stones--a rare complication of allopurinol therapy.
Topics: Adolescent; Allopurinol; Chromatography; Depression, Chemical; Erythrocytes; Fibroblasts; Humans; Le | 1969 |
A new disorder of purine metabolism with behavioral manifestations.
Topics: Adenine; Allopurinol; Autistic Disorder; Carbon Isotopes; Child Behavior Disorders; Child, Preschool | 1969 |
[Benziodarone (Amplivix) in the treatment of hyperuricemia].
Topics: Benzofurans; Female; Gout; Humans; Male; Middle Aged; Phenylbutazone; Purine-Pyrimidine Metabolism, | 1969 |
Heredity of gout and hyperuricemia.
Topics: Blood; Ethnology; Gout; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid | 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 |
Hyperuricemia.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Male; Middle Aged; Purine-Pyrimidine Met | 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 |