uric acid has been researched along with Lesch-Nyhan Syndrome in 159 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.
Lesch-Nyhan Syndrome: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder presenting with uric acid overproduction, neurocognitive disability, and behavioral disturbances." | 7.96 | Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report. ( Jeon, S; Jung, SM; Lee, J, 2020) |
| "It is the intention of this report to identify appropriate analytical tests which allow for the monitoring of allopurinol treatment of patients with Lesch-Nyhan syndrome and the prevention of uric acid or xanthine lithiasis." | 7.72 | [Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. ( Muche, J; Rebentisch, G; Stolz, S, 2004) |
| "In order to explain features of severe hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency, the Lesch-Nyhan syndrome, a continuous supply of substrate, hypoxanthine, for the enzyme must be generated." | 7.68 | The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase. ( Greenwood, R; Harkness, RA; McCreanor, GM, 1991) |
| "A Japanese boy with Lesch-Nyhan syndrome who passed xanthine calculi is reported." | 7.67 | Xanthine calculi in the patient with the Lesch-Nyhan syndrome associated with urinary tract infection. ( Ichikawa, Y; Koide, T; Mimaki, T; Oka, T; Sonoda, T; Takaha, M; Utsunomiya, M, 1985) |
| "In a 7-year-old patient with Lesch-Nyhan syndrome (LNS) the 15N excess frequency was determined in the excreted uric acid after oral application of 27 mg 15N glycine/kg body weight, using emission spectrometry." | 7.67 | Adenine therapy in Lesch-Nyhan syndrome. ( Bührdel, P; Hirschberg, K; Krüger, W; Wehnert, M, 1985) |
| "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) |
| "Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder presenting with uric acid overproduction, neurocognitive disability, and behavioral disturbances." | 3.96 | Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report. ( Jeon, S; Jung, SM; Lee, J, 2020) |
| "Three SNPs, URAT1 rs11231825, GLUT9 rs16890979 and ABCG2 rs2231142, previously associated in our population with hyperuricemia and gout, were analyzed in 27 patients with HPRT deficiency treated with allopurinol for at least 5 years." | 3.88 | GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease. ( Puig, JG; Torres, RJ, 2018) |
| "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) |
| " Hyperuricemia leads to hyperuricuria and uric acid nephrolithiasis." | 3.74 | Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis. ( Kersnik Levart, T, 2007) |
| " Partial HPRT deficiency usually causes hyperuricemia, precocious gout, and uric acid nephrolithiasis." | 3.73 | Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation. ( Gregoric, A; Kokalj Vokac, N; Rabelink, GM; Varda, NM; Zagradisnik, B, 2005) |
| "It is the intention of this report to identify appropriate analytical tests which allow for the monitoring of allopurinol treatment of patients with Lesch-Nyhan syndrome and the prevention of uric acid or xanthine lithiasis." | 3.72 | [Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. ( Muche, J; Rebentisch, G; Stolz, S, 2004) |
| "In order to explain features of severe hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency, the Lesch-Nyhan syndrome, a continuous supply of substrate, hypoxanthine, for the enzyme must be generated." | 3.68 | The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase. ( Greenwood, R; Harkness, RA; McCreanor, GM, 1991) |
| "Lesch-Nyhan syndrome is a rare X-linked recessive disorder of purine metabolism associated with a virtually complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyl-transferase (HPRT)." | 3.67 | Renal oxypurine deposition in Lesch-Nyhan syndrome: sonographic evaluation. ( Parker, BR; Stevens, SK, 1989) |
| "A Japanese boy with Lesch-Nyhan syndrome who passed xanthine calculi is reported." | 3.67 | Xanthine calculi in the patient with the Lesch-Nyhan syndrome associated with urinary tract infection. ( Ichikawa, Y; Koide, T; Mimaki, T; Oka, T; Sonoda, T; Takaha, M; Utsunomiya, M, 1985) |
| "We report a case of urate overproduction owing to the Lesch-Nyhan syndrome (deficiency of hypoxanthine-guanine phosphoribosyltransferase)." | 3.67 | Xanthine-containing calculi during allopurinol therapy. ( Emmerson, BT; Gordon, RB; Keough, D; Kranen, S, 1985) |
| "In a 7-year-old patient with Lesch-Nyhan syndrome (LNS) the 15N excess frequency was determined in the excreted uric acid after oral application of 27 mg 15N glycine/kg body weight, using emission spectrometry." | 3.67 | Adenine therapy in Lesch-Nyhan syndrome. ( Bührdel, P; Hirschberg, K; Krüger, W; Wehnert, M, 1985) |
| "The contribution of reduced purine salvage to the hyperuricemia associated with hypoxanthine-guanine phosphoribosyltransferase deficiency was measured by the intravenous administration of tracer doses of [8-(14)C]adenine to nine patients with normal enzyme activity, three patients with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase, and six patients with the Lesch-Nyhan syndrome." | 3.66 | Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage. ( Edwards, NL; Fox, IH; Recker, D, 1979) |
| "The presence of pulmonary embolism is unusual and may be the consequence of prolonged immobilization." | 2.50 | Normal uricemia in Lesch-Nyhan syndrome and the association with pulmonary embolism in a young child-a case report and literature review. ( Chen, SM; Ku, MS; Lin, CH; Sheu, JN; Tsai, JD; Tsao, TF, 2014) |
| "Only a few cases of acute renal failure due to acute hyperuricemic nephropathy related to HPRT deficiency have previously been reported in infants, and there are no reported cases in newborns as young as 3 days old." | 1.35 | Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. ( Donati, MA; Fiorini, P; Pela, I; Procopio, E, 2008) |
| "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) |
| "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) |
| "In contrast, at complete HPRT deficiency, besides overproduction of uric acid neurological problems appear including spasticity, choreoathetosis, mental retardation, and compulsive self-mutilation." | 1.32 | The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis. ( Mitev, VI; Neychev, VK, 2004) |
| "Metabolic consequences of HGPRT deficiency have been clarified, but the connection with the neurological manifestations is still unknown." | 1.31 | Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients. ( Allegrini, S; Camici, M; Garcia-Gil, M; Jacomelli, G; Micheli, V; Peruzzi, L; Pesi, R; Tozzi, MG, 2000) |
| "A 20-day-old male infant presented with acute renal failure." | 1.29 | Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism. ( Hallett, RJ; Hull, RG; Jenkins, EA, 1994) |
| "Pregnancy was interrupted and the antenatal diagnosis of Lesch-Nyhan's syndrome was confirmed after delivery." | 1.28 | [Prenatal diagnosis of Lesch-Nyhan syndrome]. ( García Puig, J; López Jiménez, M; Mateos Antón, F; Ramos Hernández, T; Romera Menoyo, N, 1990) |
| "Uric acid was too small to be measured but uricase determination showed only 3 mg/24 hr." | 1.27 | Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome. ( Crawhall, JC; Itiaba, K; Katz, S, 1983) |
| "Treatment with allopurinol did not affect the HGRPT and APRT activities." | 1.26 | [Erythrocyte purine phosphoribosyltransferase activity in girls with the Lesch-Nyhan syndrome]. ( Aleksandrova, LA; Shaposhnikov, AM, 1981) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 109 (68.55) | 18.7374 |
| 1990's | 14 (8.81) | 18.2507 |
| 2000's | 20 (12.58) | 29.6817 |
| 2010's | 14 (8.81) | 24.3611 |
| 2020's | 2 (1.26) | 2.80 |
| Authors | Studies |
|---|---|
| Ambarsari, CG | 1 |
| Cahyadi, D | 1 |
| Sari, L | 1 |
| Satria, O | 1 |
| Sahli, F | 1 |
| Darmadi, TL | 1 |
| Kadaristiana, A | 1 |
| Lee, J | 1 |
| Jung, SM | 1 |
| Jeon, S | 1 |
| Ronda, L | 1 |
| Marchetti, M | 1 |
| Piano, R | 1 |
| Liuzzi, A | 1 |
| Corsini, R | 1 |
| Percudani, R | 1 |
| Bettati, S | 1 |
| Torres, RJ | 6 |
| Puig, JG | 9 |
| Jacomelli, G | 2 |
| Baldini, E | 1 |
| Mugnaini, C | 1 |
| Micheli, V | 2 |
| Bernardini, G | 1 |
| Santucci, A | 1 |
| Tsai, JD | 1 |
| Chen, SM | 1 |
| Lin, CH | 1 |
| Ku, MS | 1 |
| Tsao, TF | 1 |
| Sheu, JN | 1 |
| Hsu, KC | 1 |
| Wang, FS | 1 |
| Doucet, BP | 1 |
| Jegatheesan, D | 1 |
| Burke, J | 1 |
| Fu, R | 2 |
| Chen, CJ | 2 |
| Jinnah, HA | 4 |
| Hsieh, DT | 1 |
| Gropman, AL | 1 |
| Pearl, PL | 1 |
| Roche, A | 1 |
| Pérez-Dueñas, B | 1 |
| Camacho, JA | 1 |
| García-Cazorla, A | 1 |
| Artuch, R | 1 |
| Mir, S | 1 |
| Yavascan, O | 1 |
| Mutlubas, F | 1 |
| Berdeli, A | 1 |
| Sen, S | 1 |
| Ceballos-Picot, I | 2 |
| Visser, JE | 1 |
| Schretlen, DJ | 2 |
| Verdu, A | 1 |
| Laróvere, LE | 2 |
| Cossu, A | 1 |
| Wu, CH | 1 |
| Sampat, R | 2 |
| Chang, SJ | 1 |
| de Kremer, RD | 1 |
| Nyhan, W | 1 |
| Harris, JC | 3 |
| Reich, SG | 1 |
| Gasperini, S | 1 |
| Stagi, S | 1 |
| Gasperini, U | 1 |
| Guerrini, R | 1 |
| la Marca, G | 1 |
| Donati, MA | 2 |
| Gucev, Z | 1 |
| Koceva, S | 1 |
| Marinaki, A | 1 |
| Fairbanks, L | 1 |
| Kirovski, I | 1 |
| Tasic, V | 1 |
| Fischbach, M | 1 |
| de Kremer, R | 1 |
| Akl, KF | 1 |
| Wamser, MN | 1 |
| Leite, EF | 1 |
| Ferreira, VV | 1 |
| Delwing-de Lima, D | 1 |
| da Cruz, JG | 1 |
| Wyse, AT | 2 |
| Delwing-Dal Magro, D | 1 |
| Yamaoka, T | 1 |
| Bavaresco, CS | 1 |
| Zugno, AI | 1 |
| Tagliari, B | 1 |
| Wannmacher, CM | 1 |
| Wajner, M | 1 |
| Neychev, VK | 1 |
| Mitev, VI | 1 |
| Rebentisch, G | 1 |
| Stolz, S | 1 |
| Muche, J | 1 |
| Fairbanks, LD | 2 |
| Duley, JA | 1 |
| Simmonds, HA | 3 |
| Nyhan, WL | 9 |
| Gregoric, A | 1 |
| Rabelink, GM | 1 |
| Kokalj Vokac, N | 1 |
| Varda, NM | 1 |
| Zagradisnik, B | 1 |
| Maramattom, BV | 1 |
| Prior, C | 2 |
| Kersnik Levart, T | 1 |
| Emmerson, BT | 8 |
| Wyngaarden, JB | 1 |
| Pela, I | 1 |
| Procopio, E | 1 |
| Fiorini, P | 1 |
| Ishida, Y | 1 |
| Ishimaru, A | 1 |
| Tauchi, H | 1 |
| Yamaguchi, A | 1 |
| Yokoyama, M | 1 |
| Hiroi, K | 1 |
| Wakamatsu, N | 1 |
| Yamada, Y | 1 |
| Proctor, PH | 1 |
| Gutensohn, W | 2 |
| Seegmiller, JE | 8 |
| Perignon, JL | 1 |
| Cartier, P | 1 |
| Wilson, JM | 1 |
| Kelley, WN | 5 |
| Crawhall, JC | 3 |
| Itiaba, K | 2 |
| Katz, S | 1 |
| Cameron, JS | 1 |
| Webster, DR | 1 |
| Wass, V | 1 |
| Sahota, A | 1 |
| MacDermot, KD | 1 |
| Allsop, J | 1 |
| Watts, RW | 5 |
| Wortmann, RL | 1 |
| Fox, IH | 4 |
| Laszlo, A | 1 |
| Osztovics, M | 1 |
| Dallmann, L | 1 |
| Mattyus, A | 1 |
| Aleksandrova, LA | 2 |
| Shaposhnikov, AM | 2 |
| Edwards, NL | 3 |
| Recker, DP | 1 |
| Reif, MC | 1 |
| Constantiner, A | 1 |
| Levitt, MF | 1 |
| Page, T | 2 |
| Barshop, B | 1 |
| Yu, AL | 1 |
| Roscioni, G | 1 |
| Farnetani, MA | 1 |
| Pagani, R | 1 |
| Pizzichini, M | 1 |
| Marinello, E | 1 |
| Porcelli, B | 1 |
| Rosenfeld, DL | 1 |
| Preston, MP | 1 |
| Salvaggi-Fadden, K | 1 |
| Jenkins, EA | 1 |
| Hallett, RJ | 1 |
| Hull, RG | 1 |
| Curto, R | 1 |
| Voit, EO | 1 |
| Cascante, M | 1 |
| Coleman, M | 1 |
| Pesi, R | 1 |
| Peruzzi, L | 1 |
| Camici, M | 1 |
| Garcia-Gil, M | 1 |
| Allegrini, S | 1 |
| Tozzi, MG | 1 |
| De Gregorio, L | 1 |
| O'Neill, JP | 1 |
| Ankem, M | 1 |
| Glazier, DB | 1 |
| Barone, JG | 1 |
| Augoustides-Savvopoulou, P | 1 |
| Papachristou, F | 1 |
| Dimitrakopoulos, K | 1 |
| Marinaki, AM | 1 |
| Mertz, DP | 1 |
| Balis, ME | 4 |
| Gordon, RB | 5 |
| Johnson, LA | 2 |
| Mitrović, Z | 1 |
| Jusić, A | 1 |
| Dorhout Mees, DJ | 1 |
| Recker, D | 1 |
| Gordova-Muratovska, A | 1 |
| Delidzakova, M | 1 |
| Krízek, V | 1 |
| Cohen, A | 1 |
| Doyle, D | 1 |
| Martin, DW | 1 |
| Ammann, AJ | 1 |
| Berger, H | 1 |
| Zoch-Zwierz, W | 1 |
| Arima, M | 2 |
| Eyman, E | 1 |
| Kawenoki-Minc, E | 1 |
| Bunn, DN | 1 |
| Moss, IK | 1 |
| Nicholls, A | 1 |
| Scott, JT | 1 |
| Snaith, ML | 1 |
| Watson, MR | 1 |
| Künzer, W | 1 |
| Schneider, W | 1 |
| Morgenstern, E | 1 |
| Schindera, I | 1 |
| Siegenthaler-Zuber, G | 1 |
| Higashino, K | 1 |
| Yamamoto, T | 1 |
| Moriwaki, Y | 1 |
| Bhagat, MM | 1 |
| Reid, CJ | 1 |
| Mateos, FA | 3 |
| Ramos, TH | 1 |
| Jiménez, ML | 2 |
| Romera, NM | 1 |
| González, AG | 1 |
| Harkness, RA | 1 |
| McCreanor, GM | 1 |
| Greenwood, R | 1 |
| Fujimori, S | 1 |
| Yamanouchi, T | 1 |
| Akaoka, I | 1 |
| Williams-Larson, AW | 1 |
| Meguid, NA | 1 |
| Aboul-Ezz, EH | 1 |
| Seif, E | 1 |
| Temtamy, SA | 1 |
| Mateos Antón, F | 1 |
| García Puig, J | 1 |
| Ramos Hernández, T | 1 |
| López Jiménez, M | 1 |
| Romera Menoyo, N | 1 |
| Ramos, T | 1 |
| Capitán, MC | 1 |
| Gil, AA | 1 |
| Stevens, SK | 1 |
| Parker, BR | 1 |
| Yip, LC | 2 |
| Xu, YL | 1 |
| Pennes, DR | 1 |
| Martel, W | 1 |
| Semenova, IA | 1 |
| Oka, T | 1 |
| Utsunomiya, M | 1 |
| Ichikawa, Y | 1 |
| Koide, T | 1 |
| Takaha, M | 1 |
| Mimaki, T | 1 |
| Sonoda, T | 1 |
| Kranen, S | 1 |
| Keough, D | 1 |
| Ogawa, A | 1 |
| Watanabe, K | 1 |
| Minejima, N | 1 |
| Bührdel, P | 1 |
| Krüger, W | 1 |
| Hirschberg, K | 1 |
| Wehnert, M | 1 |
| Lozano-Tonkin, C | 1 |
| Felix, JS | 1 |
| DeMars, R | 1 |
| Kekre, S | 1 |
| Singh, SD | 1 |
| Chhaparwal, BC | 1 |
| Pohowalla, JN | 1 |
| Pasero, GP | 1 |
| Ciompi, MI | 1 |
| Rautenstrauch, T | 1 |
| Bakay, B | 2 |
| Dancis, J | 2 |
| Cox, RP | 1 |
| Piomelli, S | 1 |
| Benke, PJ | 3 |
| Herrick, N | 2 |
| Hebert, A | 1 |
| Borden, M | 1 |
| Johnson, MG | 1 |
| Rosenweig, S | 1 |
| Switzer, RL | 1 |
| Becker, MA | 2 |
| Thompson, L | 3 |
| Horváth, M | 1 |
| Fekete, M | 1 |
| Gábriel, I | 1 |
| McKeran, RO | 2 |
| Brown, E | 1 |
| Andrews, TM | 2 |
| Griffiths, MI | 1 |
| Wood, MH | 1 |
| Fox, RM | 1 |
| Vincent, L | 1 |
| Reye, C | 1 |
| O'Sullivan, WJ | 1 |
| Henderson, JF | 1 |
| Delbarre, F | 3 |
| de Gery, A | 2 |
| Boyle, JA | 3 |
| Kuska, J | 2 |
| Banfalvi, M | 1 |
| Champanier, JP | 1 |
| Etienne, JC | 1 |
| Gougeon, J | 1 |
| Pascalis, G | 1 |
| Auscher, C | 2 |
| Eyssette, M | 1 |
| Setiey, A | 1 |
| Aimard, G | 1 |
| Devic, M | 1 |
| Forette, B | 1 |
| Demus, A | 1 |
| Kaiser, W | 1 |
| Schaub, J | 1 |
| Meigel, W | 1 |
| Braun-Falco, O | 1 |
| Lepercq, G | 1 |
| Poupinet, S | 1 |
| Steinschneider, R | 1 |
| Weiler, C | 1 |
| Leiber, B | 1 |
| Olbrich, G | 1 |
| Yamamura, Y | 1 |
| Geerdink, RA | 2 |
| de Vries, WH | 1 |
| Willemse, J | 1 |
| Oei, TL | 2 |
| de Bruyn, CH | 2 |
| Lommen, EJ | 1 |
| Tcherdakoff, P | 1 |
| Müller, MM | 1 |
| Stemberger, H | 1 |
| Howell, A | 1 |
| Arlett, CF | 1 |
| Mercier, N | 1 |
| Pasquier, C | 1 |
| Ceccarelli, M | 1 |
| Ciompi, ML | 1 |
| Pasero, G | 1 |
| Jezewska, MM | 1 |
| Tobias, PV | 1 |
| Van Heeswijk, PJ | 1 |
| Blank, CH | 1 |
| Jacobson, CB | 1 |
| Greene, ML | 2 |
| Manzke, H | 1 |
| Harms, D | 1 |
| Dörner, K | 1 |
| Berry, HK | 1 |
| Granger, M | 1 |
| Wharton, BA | 1 |
| Bassi, U | 1 |
| Gough, G | 1 |
| Williams, A | 1 |
| Mikanagi, K | 1 |
| Aoki, N | 1 |
| Ono, K | 1 |
| Mizuno, T | 1 |
| Segawa, M | 1 |
| Kurumada, T | 1 |
| Maruyama, H | 1 |
| Onisawa, J | 1 |
| Berman, PH | 1 |
| Krakoff, IH | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| [NCT00004314] | Phase 2 | 2 participants | Interventional | 1996-02-29 | Completed | ||
| 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] | |||||||
28 reviews available for uric acid and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
Normal uricemia in Lesch-Nyhan syndrome and the association with pulmonary embolism in a young child-a case report and literature review.
Topics: DNA, Complementary; Exons; Gene Deletion; Humans; Hypoxanthine Phosphoribosyltransferase; Immobiliza | 2014 |
Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.
Topics: Behavior; Genetic Association Studies; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan S | 2014 |
Attenuated variants of Lesch-Nyhan disease.
Topics: Adolescent; Adult; Age of Onset; Aged; Child; Child, Preschool; Cognition Disorders; Cohort Studies; | 2010 |
[Biosynthetic pathways for purine nucleotides and uric acid].
Topics: Adenine Phosphoribosyltransferase; Adenosine Triphosphate; Allosteric Regulation; Amidophosphoribosy | 2003 |
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 |
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
Topics: Amino Acid Substitution; Cells, Cultured; Codon; DNA Mutational Analysis; DNA, Complementary; Exons; | 2000 |
[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 |
[Uric acid metabolism, specifically the effect of diuretics on the process].
Topics: Allopurinol; Biological Transport; Diuretics; Glomerular Filtration Rate; Gout; Humans; Hypoxanthine | 1979 |
Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
Topics: Adolescent; Adult; Anemia, Megaloblastic; Child; Child, Preschool; Chromosome Mapping; Erythrocytes; | 1976 |
[Inborn errors of metabolism and their significance in urology and nephrology].
Topics: Acidosis, Renal Tubular; Alkaptonuria; Cystinuria; Diabetes Insipidus; Female; Glycine; Gout; Humans | 1976 |
Uric acid biosynthesis and its disorders.
Topics: Adult; Child, Preschool; Female; Gout; Humans; Immunologic Deficiency Syndromes; Infant; Kidney Calc | 1976 |
[Screening for enzyme abnormality causing hyperuricemia].
Topics: Glycogen Storage Disease Type I; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrom | 1991 |
[HPRT deficiency].
Topics: Base Sequence; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Molecular Seque | 1991 |
Urinary calculi associated with purine metabolism. Uric acid nephrolithiasis.
Topics: Adenine Phosphoribosyltransferase; Humans; Kidney Calculi; Lesch-Nyhan Syndrome; Purines; Risk Facto | 1990 |
Uric acid studies in serum and cerebrospinal fluid in neurological disorders with mental retardation.
Topics: Carbohydrate Metabolism, Inborn Errors; Central Nervous System Diseases; Cerebral Palsy; Child; Chil | 1971 |
[Hyperuricemia in childhood].
Topics: Anemia, Hemolytic; Child; Down Syndrome; Glycogen Storage Disease; Gout; Humans; Kidney Calculi; Kid | 1973 |
Phosphoribosylpyrophosphate in man: biochemical and clinical significance.
Topics: Adenine; Adrenocorticotropic Hormone; Allopurinol; Animals; Glycogen; Gout; Humans; Lesch-Nyhan Synd | 1971 |
Diagnosis and treatment of the Lesch-Nyhan syndrome.
Topics: Allopurinol; Amniocentesis; Athetosis; Brain; Erythrocytes; Fibroblasts; Humans; Intellectual Disabi | 1972 |
[Gout, archetype of diseases caused by deposits].
Topics: Gout; Humans; Kidney Calculi; Kinins; Lesch-Nyhan Syndrome; Metabolic Diseases; Nephritis, Interstit | 1972 |
The Lesch-Nyhan syndrome.
Topics: Allopurinol; Animals; Brain; Chromosome Aberrations; Chromosome Disorders; Guanine; Humans; Hypoxant | 1973 |
Aetiology of gout.
Topics: Allopurinol; Creatinine; Diet Therapy; Erythrocytes; Gout; Humans; Hypoxanthines; Lesch-Nyhan Syndro | 1973 |
[Effect of purine metabolism on renal function].
Topics: Alcoholic Intoxication; Female; Humans; Kidney; Lesch-Nyhan Syndrome; Male; Physical Exertion; Pre-E | 1974 |
Genetic aspects of gout.
Topics: Adenine; Allopurinol; Carbon Radioisotopes; Erythrocytes; Fibroblasts; Glucosephosphate Dehydrogenas | 1974 |
[Metabolic factors associated with urolithiasis. Part II (author's transl)].
Topics: Allopurinol; Bile Acids and Salts; Calcium; Diuretics; Humans; Hydrogen-Ion Concentration; Hyperpara | 1974 |
Molecular variation in relation to purine metabolism.
Topics: Amidophosphoribosyltransferase; Chemical Phenomena; Chemistry; Glucosephosphate Dehydrogenase Defici | 1974 |
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 |
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 |
1 trial available for uric acid and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout.
Topics: Adolescent; Adult; Arthritis; Clinical Trials as Topic; Creatinine; Female; Genetic Linkage; Glycine | 1976 |
130 other studies available for uric acid and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report.
Topics: Adolescent; Allopurinol; Cerebral Palsy; Delayed Diagnosis; Exons; Gout Suppressants; Humans; Hypoxa | 2020 |
Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report.
Topics: Administration, Intravenous; Adolescent; Anesthesia Recovery Period; Anesthesia, General; Humans; Hy | 2020 |
A Trivalent Enzymatic System for Uricolytic Therapy of HPRT Deficiency and Lesch-Nyhan Disease.
Topics: Allantoin; Amidohydrolases; Animals; Carboxy-Lyases; Enzyme Therapy; Humans; Hyperuricemia; Hypoxant | 2017 |
GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
Topics: Adolescent; Adult; Allopurinol; ATP Binding Cassette Transporter, Subfamily G, Member 2; Biomarkers; | 2018 |
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.
Topics: Allopurinol; Cells, Cultured; Enzyme Inhibitors; Humans; Hyperuricemia; Hypoxanthine; Hypoxanthine P | 2019 |
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 |
Late diagnosis of Lesch-Nyhan disease variant.
Topics: Adult; Allopurinol; Diuretics; Genetic Counseling; Gout; Gout Suppressants; Humans; Hyperuricemia; H | 2013 |
A 2-year-old male with developmental delay, irritability, and failure to thrive.
Topics: Child, Preschool; Developmental Disabilities; Failure to Thrive; Humans; Lesch-Nyhan Syndrome; Male; | 2008 |
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.
Topics: Dose-Response Relationship, Drug; Gene Deletion; Gout Suppressants; Humans; Hyperuricemia; Hypoxanth | 2009 |
A rare cause of chronic renal failure in a girl with elevated serum uric acid level.
Topics: Adolescent; Diagnosis, Differential; DNA Mutational Analysis; Family Health; Female; Humans; Hyperur | 2010 |
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.
Topics: Color; Diapers, Infant; Heterozygote; Humans; Infant; Lesch-Nyhan Syndrome; Male; Uric Acid | 2010 |
Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype.
Topics: Allopurinol; Antimetabolites; Fatal Outcome; Humans; Hypoxanthine Phosphoribosyltransferase; Infant; | 2010 |
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Topics: Adolescent; Adult; Child; Child, Preschool; Genetic Predisposition to Disease; Humans; Hypoxanthine | 2011 |
Orange-colored diapers in infants from families with gout.
Topics: Color; Diagnostic Errors; Diapers, Infant; Family Health; Genetic Predisposition to Disease; Gout; H | 2011 |
Effect of hypoxanthine, antioxidants and allopurinol on cholinesterase activities in rats.
Topics: Acetylcholinesterase; Allopurinol; alpha-Tocopherol; Analysis of Variance; Animals; Antioxidants; As | 2013 |
Inhibition of Na+, K+-ATPase activity in rat striatum by the metabolites accumulated in Lesch-Nyhan disease.
Topics: Analysis of Variance; Animals; Animals, Newborn; Corpus Striatum; Dose-Response Relationship, Drug; | 2004 |
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
Topics: Animals; Biochemistry; Brain; Humans; Hypoxanthine Phosphoribosyltransferase; Intellectual Disabilit | 2004 |
[Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy].
Topics: Allopurinol; Child; Dose-Response Relationship, Drug; Drug Monitoring; Humans; Hypoxanthine; Kidney | 2004 |
Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies.
Topics: Adenylosuccinate Lyase; Adolescent; Adult; Aged; Blood-Brain Barrier; Case-Control Studies; Child; C | 2004 |
Lesch-Nyhan Disease.
Topics: Chromosomes, Human, X; Genes, Recessive; History, 20th Century; Humans; Hypoxanthine Phosphoribosylt | 2005 |
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Topics: Allopurinol; Child, Preschool; Enzyme Inhibitors; Follow-Up Studies; Humans; Hyperuricemia; Hypoxant | 2005 |
Self-mutilation in the Lesch-Nyhan syndrome.
Topics: Arm Injuries; Bites, Human; Central Nervous System; Child; Diagnosis, Differential; Humans; Hypoxant | 2005 |
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 |
Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis.
Topics: Cerebral Palsy; Child; Diagnosis, Differential; Humans; Kidney; Lesch-Nyhan Syndrome; Male; Nephroca | 2007 |
Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adenine Phosphoribosyltransferase; Adolescent; Adult; Creatinine; Erythrocytes; Female; Glycine; Het | 1969 |
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adolescent; Adult; Allopurinol; Antimetabolites; Child; Child, Preschool; Dose-Response Relationship | 2007 |
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.
Topics: Acute Kidney Injury; Humans; Infant, Newborn; Kidney; Lesch-Nyhan Syndrome; Male; Ultrasonography; U | 2008 |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
Topics: Allopurinol; Antimetabolites; Creatinine; Electrophoresis, Agar Gel; Humans; Hypoxanthine Phosphorib | 2008 |
Uric acid: neuroprotective or neurotoxic?
Topics: Animals; Antioxidants; Brain Ischemia; Gout; Humans; Hyperuricemia; Lesch-Nyhan Syndrome; Neuroprote | 2008 |
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 |
Molecular genetics of the HPRT-deficiency syndromes.
Topics: Amino Acid Sequence; Female; Genetic Carrier Screening; Gout; Humans; Hypoxanthine Phosphoribosyltra | 1984 |
Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome.
Topics: Chromatography, High Pressure Liquid; Humans; Hypoxanthines; Lesch-Nyhan Syndrome; Male; Middle Aged | 1983 |
Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure.
Topics: Acute Kidney Injury; Adenine Phosphoribosyltransferase; Adolescent; Clinical Enzyme Tests; Creatinin | 1984 |
The rate of purine synthesis de nova in blood mononuclear cells in vitro from patients with familial hyperuricaemic nephropathy.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Erythrocytes; Female; Gout; Humans; Kidney Disease | 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 |
Hyperuricaemia associated with 18q deletion. Atypical Lesch-Nyhan syndrome?
Topics: Chromosome Deletion; Chromosomes, Human, 16-18; Diagnosis, Differential; Humans; Hypoxanthine Phosph | 1981 |
[Erythrocyte purine phosphoribosyltransferase activity in girls with the Lesch-Nyhan syndrome].
Topics: Adenine Phosphoribosyltransferase; Allopurinol; Child; Child, Preschool; Erythrocytes; Female; Human | 1981 |
Hypoxanthine salvage in man: its importance in urate overproduction in the Lesch-Nyhan syndrome.
Topics: Adenine; Fructose; Humans; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Kinetics; Lesch-Ny | 1980 |
Chronic gouty nephropathy: a vanishing syndrome?
Topics: Animals; Gout; Humans; Kidney Diseases; Lead Poisoning; Lesch-Nyhan Syndrome; Lymphoproliferative Di | 1981 |
Treatment of Lesch-Nyhan syndrome with AICAR.
Topics: Adolescent; Aminoimidazole Carboxamide; Humans; Hypoxanthine; Hypoxanthines; Infusions, Intravenous; | 1994 |
Plasma and urinary oxypurines in Lesch-Nyhan patient after allopurinol treatment.
Topics: Child; Erythrocytes; Fibroblasts; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypo | 1994 |
Serial renal sonographic evaluation of patients with Lesch-Nyhan syndrome.
Topics: Adolescent; Child; Child, Preschool; Humans; Kidney; Kidney Calculi; Lesch-Nyhan Syndrome; Ultrasono | 1994 |
Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism.
Topics: Acute Kidney Injury; Erythrocytes; Gout; Humans; Hypothyroidism; Hypoxanthine Phosphoribosyltransfer | 1994 |
Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.
Topics: Adenylosuccinate Lyase; Aminoimidazole Carboxamide; AMP Deaminase; Gout; Humans; Hypoxanthine Phosph | 1998 |
De novo purine synthesis is increased in the fibroblasts of purine autism patients.
Topics: Autistic Disorder; Cells, Cultured; Fibroblasts; Gout; Humans; Lesch-Nyhan Syndrome; Purines; Refere | 1998 |
Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients.
Topics: 5'-Nucleotidase; Adolescent; Adult; Aminoimidazole Carboxamide; Animals; Apoptosis; Autistic Disorde | 2000 |
Lesch-Nyhan syndrome presenting as acute renal failure secondary to obstructive uropathy.
Topics: Acute Kidney Injury; Anuria; Child, Preschool; Humans; Kidney Calculi; Lesch-Nyhan Syndrome; Male; U | 2000 |
Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
Topics: Adolescent; Erythrocytes; Humans; Kidney Failure, Chronic; Lesch-Nyhan Syndrome; Male; Nuclear Famil | 2002 |
[Clinical and biochemical heterogeneity of the Lesch-Nyhan syndrome].
Topics: Adenine Phosphoribosyltransferase; Adolescent; Ceruloplasmin; Child; Child, Preschool; Electron Tran | 1979 |
Purine and pyrimidine metabolism.
Topics: Adenosine; Adenosine Triphosphate; Allopurinol; Animals; Ascorbic Acid; Female; Humans; Hypoxanthine | 1977 |
Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
Topics: Autoradiography; Brain; Erythrocytes; Female; Glycine; Heterozygote; Humans; Hypoxanthine Phosphorib | 1977 |
[Spinal and bulbar amyotrophy, blepharospasm, Parkinson's syndrome and hyperuricemia].
Topics: Blepharospasm; Eyelid Diseases; Humans; Lesch-Nyhan Syndrome; Male; Middle Aged; Muscular Atrophy; P | 1979 |
The Lesch-Nyhan syndrome.
Topics: 5-Hydroxytryptophan; Adolescent; Aggression; Allopurinol; Behavior Therapy; Child; Child Behavior Di | 1978 |
Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.
Topics: Adenine; Adolescent; Adult; Aged; Carbon Radioisotopes; Child; Child, Preschool; Fructose; Humans; H | 1979 |
[Lesch-Nyhan syndrome--encephalopathy with total concentration of uric acid in the blood].
Topics: Humans; Infant; Lesch-Nyhan Syndrome; Male; Uric Acid | 1977 |
Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase.
Topics: Child; Erythrocytes; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Immunologic Deficiency | 1976 |
[Pathogenesis and clinical manifestations of Lesch-Nyhan syndrome].
Topics: Aggression; Brain; Genes, Recessive; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syn | 1977 |
[Management of congenital enzyme abnormality].
Topics: Child, Preschool; Humans; Lesch-Nyhan Syndrome; Male; Metabolism, Inborn Errors; Uric Acid | 1977 |
[Enzymopathies as a cause of hyperuricemia].
Topics: Adenine Phosphoribosyltransferase; Carbohydrate Metabolism; Feedback; Gout; Humans; Hypoxanthine Pho | 1977 |
Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adenine Phosphoribosyltransferase; Adolescent; Child; Child, Preschool; Diagnosis, Differential; Ele | 1975 |
[Proceedings: New case of Lesch-Nyhan syndrome. Attempt at treatment using adenine].
Topics: Adenine; Allopurinol; Humans; Infant; Lesch-Nyhan Syndrome; Male; Uric Acid | 1975 |
[Lesch-Nyhan syndrome without self-mutilation: biochemical and morphological studies on blood cells (author's transl)].
Topics: Adult; Erythrocytes; Histocytochemistry; Humans; Hypoxanthine Phosphoribosyltransferase; Intellectua | 1976 |
[Which uric acid value is in need of treatment?].
Topics: Allopurinol; Benzbromarone; Citrates; Coronary Disease; Gout; Humans; Hyperlipidemias; Hypertension; | 1976 |
Clinical quiz. Lesch-Nyhan syndrome.
Topics: Creatinine; Humans; Hypoxanthine Phosphoribosyltransferase; Infant, Newborn; Lesch-Nyhan Syndrome; M | 1991 |
Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis.
Topics: Adult; Amniotic Fluid; Female; Fetal Blood; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransfe | 1991 |
The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase.
Topics: Adenosine Triphosphate; Adult; Aging; Body Mass Index; Creatinine; Exercise; Female; Humans; Hypoxan | 1991 |
Heterozygous expression of Lesch-Nyhan syndrome clinical and ultrastructural studies.
Topics: Child; Female; Genetic Carrier Screening; Gingiva; Humans; Lesch-Nyhan Syndrome; Male; Pedigree; Sen | 1990 |
[Prenatal diagnosis of Lesch-Nyhan syndrome].
Topics: Adult; Amniocentesis; Amniotic Fluid; Family Health; Female; Fetal Diseases; Humans; Hypoxanthines; | 1990 |
Impaired renal excretion of hypoxanthine and xanthine in primary gout.
Topics: Adult; Aged; Female; Gout; Humans; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Kidney; Le | 1989 |
Renal oxypurine deposition in Lesch-Nyhan syndrome: sonographic evaluation.
Topics: Allopurinol; Child; Humans; Hypoxanthine; Hypoxanthines; Kidney Calculi; Lesch-Nyhan Syndrome; Male; | 1989 |
Membrane-associated HPRTase activity in hyperuricemic and Lesch-Nyhan syndrome cells.
Topics: Cell Membrane; Erythrocyte Membrane; Female; Fibroblasts; Humans; Hypoxanthine Phosphoribosyltransfe | 1986 |
Hyperuricemia and gout.
Topics: Adolescent; Age Factors; Arthritis; Arthrography; Bone Diseases; Child; Diagnosis, Differential; Fem | 1986 |
[Pathogenetic mechanisms and therapy of a subclinical form of Lesch-Nyhan syndrome].
Topics: Adolescent; Child; Child, Preschool; Combined Modality Therapy; Erythrocytes; Humans; Hypoxanthine P | 1986 |
The effect of allopurinol on cerebral spinal fluid (CSF) purines in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency syndromes.
Topics: Adolescent; Allopurinol; Child; Child, Preschool; Humans; Hypoxanthine Phosphoribosyltransferase; In | 1986 |
[Metabolic aspects of the pathogenesis of hyperuricemia].
Topics: Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Purines; Uric Acid | 1986 |
Xanthine calculi in the patient with the Lesch-Nyhan syndrome associated with urinary tract infection.
Topics: Allopurinol; Child; Combined Modality Therapy; Enterococcus faecalis; Humans; Kidney Calculi; Lesch- | 1985 |
Xanthine-containing calculi during allopurinol therapy.
Topics: Adult; Allopurinol; Humans; Hypoxanthine; Hypoxanthines; Kidney Calculi; Lesch-Nyhan Syndrome; Male; | 1985 |
Renal xanthine stone in Lesch-Nyhan syndrome treated with allopurinol.
Topics: Allopurinol; Child; Humans; Kidney; Kidney Calculi; Lesch-Nyhan Syndrome; Male; Uric Acid; Xanthines | 1985 |
Adenine therapy in Lesch-Nyhan syndrome.
Topics: Adenine; Allopurinol; Child; Drug Therapy, Combination; Female; Humans; Hypoxanthine Phosphoribosylt | 1985 |
[Nephrolithiasis within the framework of internal medicine (author's transl)].
Topics: Antineoplastic Agents; Cystine; Gout; Humans; Kidney Calculi; Lesch-Nyhan Syndrome; Myeloproliferati | 1974 |
The Lesch-Nyhan syndrome.
Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Lesch-Nyha | 1974 |
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 |
[Lesch-Nyhan syndrome].
Topics: Allopurinol; Athetosis; Child; Compulsive Behavior; Diet Therapy; Humans; Huntington Disease; Intell | 1974 |
Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.
Topics: Athetosis; Carbon Isotopes; Chromatography, Gel; Diphosphates; Electrophoresis, Disc; Enzyme Activat | 1972 |
Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.
Topics: Adolescent; Carbon Isotopes; Diphosphates; Epilepsy, Tonic-Clonic; Erythrocytes; Genotype; Glucoseph | 1973 |
Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.
Topics: Adolescent; Aminopterin; Azaguanine; Azaserine; Cells, Cultured; Culture Media; Erythrocytes; Fibrob | 1973 |
Increased activity of adenine phosphoribosyltransferase in erythrocytes of normal newborn infants.
Topics: Adenine; Adult; Age Factors; Carbon Radioisotopes; Electrophoresis, Polyacrylamide Gel; Erythrocyte | 1974 |
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 |
Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adenine; Carbon Radioisotopes; Erythrocytes; Female; Heterozygote; Humans; Inosine Nucleotides; Lesc | 1974 |
[Lesch-Nyhan syndrome].
Topics: Allopurinol; Humans; Infant; Lesch-Nyhan Syndrome; Male; Uric Acid | 1974 |
Clinical and biochemical studies on treatment of Lesch-Nyhan syndrome.
Topics: Adenine; Allopurinol; Body Weight; Child, Preschool; Chlorpromazine; Creatinine; Exchange Transfusio | 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 |
Variations in purine phosphoribosyl transferase enzymes during growth of fibroblast cell cultures.
Topics: Adenine; Adenosine Monophosphate; Carbon Isotopes; Cell Division; Cells, Cultured; Clinical Enzyme T | 1972 |
[Encephalopathy with self mutilations in a twin. Normal HGPRT activity. Hyperuricosuria without major hyperuricemia. Apropos of the limits of the Lesch-Nyham syndrome].
Topics: Adolescent; Brain Diseases; Diagnosis, Differential; Diseases in Twins; Humans; Lesch-Nyhan Syndrome | 1972 |
[Molecular bases of the treatment of Lesch-Nyhan syndrome, related syndromes and common gout].
Topics: Adenine Nucleotides; Allopurinol; Feedback; Gout; Guanosine; Humans; Hypoxanthines; Lesch-Nyhan Synd | 1972 |
[Self mutilation behavior and uric acid metabolism disorders in an adult (Lesch-Nyhan syndrome?)].
Topics: Adult; Age Factors; Diagnosis, Differential; Humans; Lesch-Nyhan Syndrome; Male; Neurologic Manifest | 1972 |
[Teachings concerning congenital hyperuricemia. Lesch-Nyhan syndrome].
Topics: Aggression; Child Behavior Disorders; Guanine; Heterozygote; Humans; Hypoxanthines; Lesch-Nyhan Synd | 1973 |
The Lesch-Nyhan syndrome. Metabolic studies during administration of adenine.
Topics: Adenine; Carbon Isotopes; Glycine; Humans; Hypoxanthines; Infant; Lesch-Nyhan Syndrome; Male; Pentos | 1973 |
[Self mutilation of the lower lip, associated with athetosis and oligophrenia without purine metabolism disorder ("pseudo Lesch-Nyhan syndrome")].
Topics: Athetosis; Clinical Enzyme Tests; Diagnosis, Differential; Guanine; Humans; Hypoxanthines; Infant; I | 1973 |
[Urinary lithiasis revealing Lesch-Nyhan syndrome].
Topics: Allopurinol; Anemia; Anti-Bacterial Agents; Humans; Infant; Intellectual Disability; Lesch-Nyhan Syn | 1973 |
[Lesch-Nyhan syndrome].
Topics: Aggression; Athetosis; Bites, Human; Chorea; Glycine; Humans; Hyperlipidemias; Intellectual Disabili | 1973 |
[Hyperuricacidemia: abnormal metabolism in biosynthesis--on Lesch-Nyhan syndrome].
Topics: Child, Preschool; Gout; Humans; Lesch-Nyhan Syndrome; Male; Purines; Uric Acid | 1973 |
An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). I. Clinical studies.
Topics: Adolescent; Adult; Bone Marrow Cells; Gout; Humans; Lesch-Nyhan Syndrome; Male; Neurologic Examinati | 1973 |
An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies.
Topics: Adenine; Autoradiography; Blood Group Antigens; Carbon Radioisotopes; Erythrocytes; Female; Fibrobla | 1973 |
[The kidney and hyperuricemia].
Topics: Gout; Humans; Kidney; Kidney Calculi; Lesch-Nyhan Syndrome; Uric Acid | 1973 |
The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adolescent; Adult; Aged; Clinical Enzyme Tests; Erythrocytes; Humans; Lesch-Nyhan Syndrome; Male; Mi | 1973 |
Erythrocyte PRPP concentrations in heterozygotes for HGPRTase deficiency.
Topics: Adenine; Erythrocytes; Female; Glycerophosphates; Guanine Nucleotides; Heterozygote; Humans; Hypoxan | 1973 |
[Biochemical and immunological studies of hypoxanthine-guanine phosphoribosyltransferase in erythrocytes of Lesch-Nyhan patients (author's transl)].
Topics: Athetosis; Child; Clinical Enzyme Tests; Compulsive Behavior; Coombs Test; Erythrocytes; Guanine; Hu | 1974 |
Observations on the growth in vitro of myeloid progenitor cells and fibroblasts from hemizygotes and heterozygotes for "complete" and "partial" hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, and their relevance to the pathogenesis of b
Topics: Adult; Bone Marrow; Bone Marrow Cells; Brain; Brain Damage, Chronic; Cell Differentiation; Cell Divi | 1974 |
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 |
Acute renal failure during adenine therapy in Lesch-Nyhan syndrome.
Topics: Acute Kidney Injury; Adenine; Body Weight; Child, Preschool; Creatinine; Erythrocytes; Humans; Hydro | 1974 |
Pathophysiology of purine metabolism in man.
Topics: Adenosine; Alkaline Phosphatase; Amidinotransferases; Amidohydrolases; Glomerular Filtration Rate; G | 1974 |
[Mechanism of action and role of xanthine oxidoreductases (author's transl)].
Topics: Animals; Chemical Phenomena; Chemistry; Chickens; Electron Transport; Flavin-Adenine Dinucleotide; G | 1974 |
Azaguanine-resistance as a manifestation of a new form of metabolic overproduction of uric acid.
Topics: Adenine; Adolescent; Aminopterin; Azaguanine; Blood Urea Nitrogen; Carbon Isotopes; Cell Line; Creat | 1972 |
Some genetical aspects of hyperuricaemia and xanthinuria.
Topics: Gout; Humans; Lesch-Nyhan Syndrome; Purine-Pyrimidine Metabolism, Inborn Errors; Sex Factors; Uric A | 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 |
[Treatment of congenital hyperuricemia].
Topics: Adolescent; Allopurinol; Athetosis; Child; Humans; Hypoxanthines; Intellectual Disability; Lesch-Nyh | 1971 |
Uric acid excretion in infants and children.
Topics: Adolescent; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Creatinine; Female; | 1971 |
Clinical value of plasma creatine kinase and uric acid levels during first week of life.
Topics: Age Factors; Birth Weight; Child Development; Creatine Kinase; Female; Humans; Infant; Infant, Newbo | 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 |
[Gout].
Topics: Adolescent; Adult; Aged; Arthritis; Colchicine; Diet Therapy; Female; Gout; Griseofulvin; Humans; Ja | 1971 |
Lesch-Nyhan syndrome.
Topics: Allopurinol; Athetosis; Benzofurans; Brain; Child; Child, Preschool; Chorea; Compulsive Behavior; Er | 1970 |
Clinical and therapeutic aspects of the Lesch-Nyhan syndrome in Japanese children.
Topics: Allopurinol; Athetosis; Azathioprine; Benzofurans; Child; Child, Preschool; Guanine; Humans; Hypoxan | 1970 |
Alteration of purine control mechanisms in patients with the Lesch-Nyhan mutation.
Topics: Athetosis; Chorea; Compulsive Behavior; Diseases in Twins; Female; Humans; Infant, Newborn; Intellec | 1971 |
Hyperuricosuria and central nervous system dysfunction.
Topics: Athetosis; Child; Child, Preschool; Female; Humans; Hypoxanthines; Lesch-Nyhan Syndrome; Male; Psych | 1967 |