orotic acid has been researched along with Deficiency Disease, Ornithine Carbamoyltransferase in 99 studies
Orotic Acid: An intermediate product in PYRIMIDINE synthesis which plays a role in chemical conversions between DIHYDROFOLATE and TETRAHYDROFOLATE.
orotic acid : A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6.
| Excerpt | Relevance | Reference |
|---|---|---|
| "These findings suggest the diagnosis of ornithine transcarbamylase deficiency." | 5.29 | Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency. ( Donati, MA; Filippi, L; Resti, M; Zammarchi, E, 1996) |
| "Arginine treatment is able to reduces attacks of hyperammonemia in boys with late-onset OTCD and to increase their growth." | 5.12 | Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency. ( Adachi, M; Kanazawa, M; Kobayashi, K; Kubota, M; Kurokawa, K; Murakami, T; Murayama, K; Nagasaka, H; Ogawa, A; Ogawa, E; Takatani, T; Takayanagi, M; Yamamoto, S; Yorifuji, T, 2006) |
| "For patients with hyperammonemia, the decreased levels of citrulline in blood tested by tandem mass spectrometry and increased orotic acid and uracil in urine on gas chromatography-mass spectrometry may aid the diagnosis OTCD." | 3.80 | [Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency]. ( Gao, X; Gong, Z; Gu, X; Han, F; Han, L; Jin, J; Qiu, W; Wang, Y; Ye, J; Zhang, H, 2014) |
| "Uracil and orotic acid concentrations were analyzed in three female patients with OTCD at both the hyperammonemia-attack and interval stages." | 3.73 | Urinary uracil in female patients with ornithine transcarbamylase deficiency. ( Ban, K; Imaeda, M; Ito, T; Ohkubo, Y; Sumi, S; Togari, H; Ueta, A, 2005) |
| "3 kb of the 5' flanking region of the rat OTC gene fused to rat OTC cDNA on urinary orotic acid excretion in OTC-deficient spf-ash (sparse-fur with abnormal skin and hair) mice during overnight-starvation and nitrogen loading." | 3.69 | Importance of ornithine transcarbamylase (OTC) deficiency in small intestine for urinary orotic acid excretion: analysis of OTC-deficient spf-ash mice with OTC transgene. ( Horiuchi, M; Kobayashi, K; Mori, K; Mori, M; Obara, T; Saheki, T; Shige, T; Suzuki, S; Yamamura, K, 1995) |
| "Groups of normal and heterozygote sparse-fur (spf) mutant mice were studied at various stages of gestation, to assess the effects of normal pregnancy on orotate excretion, hepatic mitochondrial urea cycle enzymes and any predisposition to the development of fatty liver." | 3.67 | The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice. ( Letarte, J; Qureshi, IA; Qureshi, SR; Tuchweber, B; Yousef, I, 1986) |
| "Urea cycle disorders (UCDs), including OTC deficiency (OTCD), are life-threatening diseases with a broad clinical spectrum." | 1.62 | The role of orotic acid measurement in routine newborn screening for urea cycle disorders. ( Abu Salah, N; Almashanu, S; Anikster, Y; Banne, E; Blau, A; Daas, S; Dar, D; Dumin, E; Falik-Zaccai, T; Fattal-Valevski, A; Hershkovitz, E; Josefsberg, S; Keidar, R; Khammash, H; Korman, SH; Landau, Y; Lerman-Sagie, T; Mandel, D; Mandel, H; Marom, R; Morag, I; Nadir, E; Pode-Shakked, B; Pras, E; Reznik-Wolf, H; Rostami, N; Saada, A; Saraf-Levy, T; Segel, R; Shaag, A; Shaul Lotan, N; Spiegel, R; Staretz-Chacham, O; Tal, G; Ulanovsky, I; Vaisid, T; Yosha-Orpaz, N; Zeharia, A, 2021) |
| "The orotic acid was elevated (124 µm/M Creatinine), and urine lactic acid was significantly elevated." | 1.37 | [Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency]. ( Cao, Y; Li, XT; Sun, WH; Wang, Y; Yang, Y; Zhang, M; Zhang, YP, 2011) |
| "A young patient with hepatocellular carcinoma receiving chemotherapy presented with encephalopathy." | 1.35 | Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency. ( Blanke, CD; Chan, JS; Harding, CO, 2008) |
| "Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis." | 1.33 | An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. ( Bellizzi, A; Burlina, AB; Burlina, AP; Di Palma, A; Morrone, A; Peduto, A; Sperlì, D, 2006) |
| "A presumptive diagnosis of ornithine transcarbamylase deficiency was made on the basis of the detection of orotic acid and uracil." | 1.32 | A suspected case of ornithine transcarbamylase deficiency in a cat. ( Matsumoto, I; Sawamura, M; Suzuki, T; Washizu, M; Washizu, T; Zhang, C, 2004) |
| "The results show that liver tissue from OTC deficiency patients exhibited an increased ratio of uridine nucleotides to adenosine nucleotides, while in CPS-I deficiency patients, no such increase was noted." | 1.29 | Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. ( Lambert, M; Qureshi, IA; Rajalakshmi, S; Rao, PM; Sarma, DS; Vasudevan, S, 1995) |
| "Orotic acid was separated from other urinary constituents by ion-pair formation with tetrabutylammonium, and isocratic elution from a reversed-phase column." | 1.29 | Determination of orotic acid in urine. ( Grauffel, C; Knoedgen, B; Sarhan, S; Seiler, N; Therrien, G, 1994) |
| "These findings suggest the diagnosis of ornithine transcarbamylase deficiency." | 1.29 | Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency. ( Donati, MA; Filippi, L; Resti, M; Zammarchi, E, 1996) |
| "A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma." | 1.29 | Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation. ( Ahrens, MJ; Berry, SA; Markowitz, DJ; Plante, RJ; Tuchman, M; Whitley, CB, 1996) |
| "A patient with partial ornithine transcarbamylase deficiency and his mother usually excreted a high level of uracil during the period of normal orotic acid excretion and normal serum ammonia level." | 1.28 | Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching. ( Katoh, T; Kibe, T; Kidouchi, K; Kobayashi, M; Ohba, S; Wada, Y, 1991) |
| "Partial OTC deficiency also occurs in females and can be responsible for life-threatening hyperammonemic comas in heterozygotes (15%)." | 1.28 | Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency. ( Bonaïti-Pellié, C; Cormier, V; Hentzen, D; Munnich, A; Pelet, A; Rabier, D; Rotig, A; Saudubray, JM; Toumas, E, 1990) |
| "In every family with OTC deficiency, carrier detection should be biochemical with additional DNA analysis." | 1.27 | DNA analysis of ornithine transcarbamylase deficiency. ( Bachmann, C; Schmidtke, J; Wendel, U; Wilichowski, E, 1988) |
| "A child with hyperammonaemia due to ornithine transcarbamylase deficiency is described." | 1.26 | [A new family with mutation of the structural gene of human ornithine carbamoyltransferase]. ( Bieth, R; Dreyfus, J; Flori, E; Levy, JM; Lutz, P; Stoll, C, 1978) |
| "Orotic aciduria was present (max: 693 mg/day) and was related to NH4 levels." | 1.25 | [Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)]. ( Beaudry, MA; Collu, R; Dallairf, L; Ducharme, JR; Leboeuf, G; Letarte, J; Melancon, SB, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 34 (34.34) | 18.7374 |
| 1990's | 33 (33.33) | 18.2507 |
| 2000's | 19 (19.19) | 29.6817 |
| 2010's | 10 (10.10) | 24.3611 |
| 2020's | 3 (3.03) | 2.80 |
| Authors | Studies |
|---|---|
| Staretz-Chacham, O | 1 |
| Daas, S | 1 |
| Ulanovsky, I | 1 |
| Blau, A | 1 |
| Rostami, N | 1 |
| Saraf-Levy, T | 1 |
| Abu Salah, N | 1 |
| Anikster, Y | 1 |
| Banne, E | 1 |
| Dar, D | 1 |
| Dumin, E | 1 |
| Fattal-Valevski, A | 1 |
| Falik-Zaccai, T | 1 |
| Hershkovitz, E | 1 |
| Josefsberg, S | 1 |
| Khammash, H | 1 |
| Keidar, R | 1 |
| Korman, SH | 1 |
| Landau, Y | 1 |
| Lerman-Sagie, T | 1 |
| Mandel, D | 1 |
| Mandel, H | 1 |
| Marom, R | 1 |
| Morag, I | 1 |
| Nadir, E | 1 |
| Yosha-Orpaz, N | 1 |
| Pode-Shakked, B | 1 |
| Pras, E | 1 |
| Reznik-Wolf, H | 1 |
| Saada, A | 1 |
| Segel, R | 1 |
| Shaag, A | 1 |
| Shaul Lotan, N | 1 |
| Spiegel, R | 1 |
| Tal, G | 1 |
| Vaisid, T | 1 |
| Zeharia, A | 1 |
| Almashanu, S | 1 |
| Sugahara, G | 1 |
| Yamasaki, C | 1 |
| Yanagi, A | 1 |
| Furukawa, S | 1 |
| Ogawa, Y | 1 |
| Fukuda, A | 1 |
| Enosawa, S | 1 |
| Umezawa, A | 1 |
| Ishida, Y | 1 |
| Tateno, C | 1 |
| Zabulica, M | 1 |
| Srinivasan, RC | 1 |
| Akcakaya, P | 1 |
| Allegri, G | 1 |
| Bestas, B | 1 |
| Firth, M | 1 |
| Hammarstedt, C | 1 |
| Jakobsson, T | 2 |
| Ellis, E | 1 |
| Jorns, C | 1 |
| Makris, G | 1 |
| Scherer, T | 1 |
| Rimann, N | 1 |
| van Zuydam, NR | 1 |
| Gramignoli, R | 1 |
| Forslöw, A | 1 |
| Engberg, S | 1 |
| Maresca, M | 1 |
| Rooyackers, O | 1 |
| Thöny, B | 1 |
| Häberle, J | 1 |
| Rosen, B | 1 |
| Strom, SC | 1 |
| Janzen, N | 1 |
| Terhardt, M | 1 |
| Sander, S | 1 |
| Demirkol, M | 1 |
| Gökçay, G | 1 |
| Peter, M | 1 |
| Lücke, T | 1 |
| Sander, J | 1 |
| Das, AM | 1 |
| Auray-Blais, C | 1 |
| Maranda, B | 1 |
| Lavoie, P | 1 |
| Han, F | 1 |
| Han, L | 1 |
| Ye, J | 1 |
| Qiu, W | 1 |
| Zhang, H | 1 |
| Gao, X | 1 |
| Wang, Y | 2 |
| Gong, Z | 1 |
| Jin, J | 1 |
| Gu, X | 1 |
| Tarasenko, TN | 1 |
| Rosas, OR | 1 |
| Singh, LN | 1 |
| Kristaponis, K | 1 |
| Vernon, H | 1 |
| McGuire, PJ | 1 |
| Tong, W | 1 |
| Jin, D | 1 |
| Sun, J | 1 |
| Hartung, B | 1 |
| Temme, O | 1 |
| Neuen-Jacob, E | 1 |
| Ritz-Timme, S | 1 |
| Hinderhofer, K | 1 |
| Daldrup, T | 1 |
| Brunetti-Pierri, N | 1 |
| Clarke, C | 1 |
| Mane, V | 1 |
| Palmer, DJ | 1 |
| Lanpher, B | 1 |
| Sun, Q | 1 |
| O'Brien, W | 1 |
| Lee, B | 1 |
| Ginn, SL | 1 |
| Cunningham, SC | 3 |
| Zheng, M | 1 |
| Spinoulas, A | 2 |
| Carpenter, KH | 4 |
| Alexander, IE | 3 |
| Wilcken, B | 3 |
| Kuchel, PW | 2 |
| Kok, CY | 1 |
| Dane, AP | 1 |
| Carpenter, K | 1 |
| Kizana, E | 1 |
| Sun, WH | 1 |
| Yang, Y | 1 |
| Zhang, YP | 1 |
| Li, XT | 1 |
| Zhang, M | 1 |
| Cao, Y | 1 |
| Wang, L | 2 |
| Wang, H | 1 |
| Morizono, H | 3 |
| Bell, P | 3 |
| Jones, D | 2 |
| Lin, J | 2 |
| McMenamin, D | 2 |
| Yu, H | 2 |
| Batshaw, ML | 9 |
| Wilson, JM | 5 |
| Rashed, MS | 1 |
| Jacob, M | 1 |
| Al-Amoudi, M | 1 |
| Rahbeeni, Z | 1 |
| Al-Sayed, MA | 1 |
| Al-Ahaidib, L | 1 |
| Saadallah, AA | 1 |
| Legaspi, S | 1 |
| Washizu, T | 1 |
| Washizu, M | 1 |
| Zhang, C | 1 |
| Matsumoto, I | 1 |
| Sawamura, M | 1 |
| Suzuki, T | 1 |
| Sumi, S | 3 |
| Imaeda, M | 1 |
| Ito, T | 2 |
| Ueta, A | 2 |
| Ban, K | 2 |
| Ohkubo, Y | 1 |
| Togari, H | 3 |
| Burlina, AB | 3 |
| Peduto, A | 1 |
| Di Palma, A | 1 |
| Bellizzi, A | 1 |
| Sperlì, D | 1 |
| Morrone, A | 1 |
| Burlina, AP | 1 |
| Moscioni, D | 1 |
| McCarter, RJ | 1 |
| Stern, A | 1 |
| Cabrera-Luque, J | 1 |
| Hoang, A | 1 |
| Sanmiguel, J | 1 |
| Wu, D | 1 |
| Gao, GP | 2 |
| Raper, SE | 2 |
| Nagasaka, H | 2 |
| Yorifuji, T | 2 |
| Murayama, K | 1 |
| Kubota, M | 2 |
| Kurokawa, K | 1 |
| Murakami, T | 2 |
| Kanazawa, M | 1 |
| Takatani, T | 1 |
| Ogawa, A | 1 |
| Ogawa, E | 1 |
| Yamamoto, S | 1 |
| Adachi, M | 1 |
| Kobayashi, K | 4 |
| Takayanagi, M | 1 |
| Koeberl, DD | 1 |
| Chan, JS | 1 |
| Harding, CO | 1 |
| Blanke, CD | 1 |
| Jakobs, C | 1 |
| Sweetman, L | 1 |
| Nyhan, WL | 2 |
| Gruenke, L | 1 |
| Craig, JC | 1 |
| Wadman, SK | 2 |
| Becroft, DM | 1 |
| Barry, DM | 1 |
| Webster, DR | 1 |
| Simmonds, HA | 3 |
| Haan, EA | 1 |
| Danks, DM | 1 |
| Grimes, A | 1 |
| Hoogenraad, NJ | 1 |
| Tallan, HH | 1 |
| Schaffner, F | 1 |
| Taffet, SL | 1 |
| Schneidman, K | 1 |
| Gaull, GE | 1 |
| Qureshi, IA | 9 |
| Letarte, J | 7 |
| Ouellet, R | 4 |
| Sakane, Y | 1 |
| Sugimoto, T | 1 |
| Bachmann, C | 3 |
| Colombo, JP | 1 |
| Ng, WG | 1 |
| Oizumi, J | 1 |
| Koch, R | 1 |
| Shaw, KN | 1 |
| McLaren, J | 1 |
| Donnel, GN | 1 |
| Carter, M | 1 |
| Roan, Y | 1 |
| Jung, AL | 1 |
| Rosenberg, LA | 1 |
| Brusilow, SW | 4 |
| Pineda, M | 1 |
| Vilaseca, MA | 1 |
| Vernet, A | 1 |
| Campistol, J | 1 |
| Mas, A | 1 |
| Fabrega, C | 1 |
| McCann, MT | 1 |
| Thompson, MM | 1 |
| Gueron, IC | 1 |
| Tuchman, M | 4 |
| Vasudevan, S | 2 |
| Lambert, M | 1 |
| Rao, PM | 1 |
| Rajalakshmi, S | 1 |
| Sarma, DS | 2 |
| Saheki, T | 4 |
| Mori, K | 1 |
| Horiuchi, M | 1 |
| Shige, T | 1 |
| Obara, T | 1 |
| Suzuki, S | 1 |
| Mori, M | 2 |
| Yamamura, K | 2 |
| Shimada, T | 1 |
| Tashiro, M | 1 |
| Kanzaki, T | 1 |
| Noda, T | 1 |
| Takiguchi, M | 1 |
| Seiler, N | 1 |
| Grauffel, C | 1 |
| Therrien, G | 1 |
| Sarhan, S | 1 |
| Knoedgen, B | 1 |
| Sebesta, I | 2 |
| Krijt, J | 1 |
| Fairbanks, LD | 2 |
| Davies, PM | 1 |
| Leonard, JV | 1 |
| Nelson, J | 1 |
| Leblanc, D | 1 |
| Cyr, D | 1 |
| Giguère, R | 1 |
| Mitchell, G | 1 |
| Morsy, MA | 1 |
| Zhao, JZ | 1 |
| Ngo, TT | 1 |
| Warman, AW | 1 |
| O'Brien, WE | 2 |
| Graham, FL | 1 |
| Caskey, CT | 1 |
| Ye, X | 1 |
| Robinson, MB | 3 |
| Furth, EE | 2 |
| Smith, I | 1 |
| Zammarchi, E | 1 |
| Donati, MA | 1 |
| Filippi, L | 1 |
| Resti, M | 1 |
| Yudkoff, M | 2 |
| McLaughlin, BA | 1 |
| Gorry, E | 1 |
| Anegawa, NJ | 1 |
| Smith, IA | 1 |
| Hyman, SL | 1 |
| Demmer, LA | 1 |
| Kim, JM | 1 |
| de Martinville, B | 1 |
| Dowton, SB | 1 |
| Kiwaki, K | 1 |
| Kanegae, Y | 1 |
| Saito, I | 1 |
| Komaki, S | 1 |
| Nakamura, K | 1 |
| Miyazaki, JI | 1 |
| Endo, F | 1 |
| Matsuda, I | 3 |
| Ahrens, MJ | 1 |
| Berry, SA | 1 |
| Whitley, CB | 1 |
| Markowitz, DJ | 1 |
| Plante, RJ | 1 |
| Potter, M | 2 |
| Hammond, JW | 2 |
| Fukushige, T | 1 |
| Kakinoki, H | 1 |
| Fioravanti, A | 1 |
| Flaviani, M | 1 |
| Gambelunghe, C | 1 |
| Micheletti, A | 1 |
| Sposito, M | 1 |
| Rufini, S | 1 |
| Arranz, JA | 2 |
| Riudor, E | 2 |
| Rodés, M | 2 |
| Roig, M | 1 |
| Climent, C | 2 |
| Rubio, V | 3 |
| Sentís, M | 2 |
| Burlina, A | 1 |
| Matsuura, T | 2 |
| Kidouchi, K | 4 |
| Kitou, O | 1 |
| Mikami, H | 1 |
| Ohura, T | 1 |
| Wada, Y | 4 |
| Wiltshire, EJ | 1 |
| Poplawski, NK | 1 |
| Harbord, MG | 1 |
| Harrison, RJ | 1 |
| Fletcher, JM | 1 |
| Egawa, H | 1 |
| Kikuta, H | 1 |
| Tanaka, K | 1 |
| Sim, KG | 1 |
| Green, AK | 1 |
| Hamajima, N | 1 |
| Fujimoto, S | 1 |
| Barshop, BA | 1 |
| Chirmule, N | 1 |
| Nunes, F | 1 |
| Haskal, ZJ | 1 |
| Propert, KJ | 1 |
| Magosin, S | 1 |
| Simoes, H | 1 |
| Speicher, L | 1 |
| Hughes, J | 1 |
| Tazelaar, J | 1 |
| Wivel, NA | 1 |
| DeMars, R | 1 |
| LeVan, SL | 1 |
| Trend, BL | 1 |
| Russell, LB | 1 |
| Valle, DL | 1 |
| Batshaw, M | 1 |
| van Gennip, AH | 1 |
| Grift, J | 1 |
| de Bree, PK | 1 |
| Zegers, BJ | 1 |
| Stoop, JW | 1 |
| Hokanson, JT | 1 |
| Idemoto, J | 1 |
| Schafer, IA | 1 |
| Stoll, C | 1 |
| Bieth, R | 1 |
| Dreyfus, J | 1 |
| Flori, E | 1 |
| Lutz, P | 1 |
| Levy, JM | 1 |
| McReynolds, JW | 1 |
| Mantagos, S | 1 |
| Brusilow, S | 1 |
| Rosenberg, LE | 1 |
| Quellet, R | 1 |
| Thaler, MM | 1 |
| Dhondt, JL | 2 |
| Farriaux, JP | 2 |
| Beaudry, MA | 1 |
| Collu, R | 1 |
| Leboeuf, G | 1 |
| Ducharme, JR | 1 |
| Melancon, SB | 1 |
| Dallairf, L | 1 |
| Shiro, Y | 1 |
| Yabuki, S | 1 |
| Ferrari, V | 1 |
| Dionisi-Vici, C | 1 |
| Bordugo, A | 1 |
| Zacchello, F | 1 |
| Rabier, D | 3 |
| Guillois, B | 1 |
| Bardet, J | 1 |
| Deprun, C | 1 |
| Parvy, P | 1 |
| Kamoun, P | 2 |
| Ohba, S | 2 |
| Nakamura, C | 1 |
| Katoh, T | 2 |
| Kobayashi, M | 2 |
| Holzknecht, RA | 1 |
| Kibe, T | 1 |
| Hata, A | 1 |
| Setoyama, C | 1 |
| Shimada, K | 1 |
| Yokoi, T | 1 |
| Akaboshi, I | 1 |
| Nakanishi, T | 1 |
| Shimizu, A | 1 |
| Saiki, K | 1 |
| Fujiwara, F | 1 |
| Funahashi, S | 1 |
| Hayashi, A | 1 |
| Yoshino, M | 1 |
| Nishiyori, J | 1 |
| Yamashita, F | 1 |
| Kumashiro, R | 1 |
| Abe, H | 1 |
| Tanikawa, K | 1 |
| Ohno, T | 1 |
| Nakao, K | 1 |
| Kaku, N | 1 |
| Fukushima, H | 1 |
| Bonham, JR | 1 |
| Clarke, A | 1 |
| Pelet, A | 2 |
| Rotig, A | 1 |
| Bonaïti-Pellié, C | 1 |
| Cormier, V | 1 |
| Toumas, E | 2 |
| Hentzen, D | 1 |
| Saudubray, JM | 2 |
| Munnich, A | 2 |
| Hauser, ER | 1 |
| Finkelstein, JE | 1 |
| Valle, D | 1 |
| Naylor, EW | 1 |
| Thomas, GH | 1 |
| Wendel, U | 1 |
| Wilichowski, E | 1 |
| Schmidtke, J | 1 |
| Kaplan, J | 1 |
| Frezal, J | 1 |
| Coskun, T | 1 |
| Ozalp, I | 1 |
| Mönch, S | 1 |
| Kneer, J | 1 |
| Stöckler, S | 1 |
| Grossschädl, F | 1 |
| Roscher, A | 1 |
| Girgis, N | 1 |
| McGravey, V | 1 |
| Shah, BL | 1 |
| Herrin, J | 1 |
| Shih, VE | 1 |
| Tuchweber, B | 1 |
| Yousef, I | 1 |
| Qureshi, SR | 1 |
| Lebel, S | 1 |
| Kay, JD | 1 |
| Oberholzer, VG | 1 |
| Seakins, JW | 1 |
| Hjelm, M | 1 |
| Rowe, PC | 1 |
| Newman, SL | 1 |
| Gushiken, T | 1 |
| Yoshimura, N | 1 |
2 reviews available for orotic acid and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
Metabolic mechanisms in Reye syndrome. End of a Mystery?
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Aspirin; Brain Diseases; Carbamoyl-Phosphate Synthase | 1976 |
[A case of ornithine transcarbamylase deficiency presenting severe symptoms in adulthood].
Topics: Adult; Ammonia; Arginine; Citrulline; Consciousness Disorders; Female; Glycine; Humans; Ornithine Ca | 1992 |
5 trials available for orotic acid and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency.
Topics: Age of Onset; Amino Acids; Ammonia; Analysis of Variance; Arginine; Biomarkers; Blood Proteins; Body | 2006 |
the allopurinol test in patients with Rett syndrome.
Topics: Acids; Adolescent; Allopurinol; Amino Acids; Child; Citrulline; Female; Humans; Ornithine Carbamoylt | 1993 |
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency.
Topics: Allopurinol; Child; Child, Preschool; Female; Gas Chromatography-Mass Spectrometry; Gout Suppressant | 1997 |
Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency.
Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Chromatography, High Pressure Liquid; Chrom | 1999 |
Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes.
Topics: Adolescent; Adult; Creatine; Dietary Proteins; Female; Food; Genetic Carrier Screening; Humans; Male | 2001 |
92 other studies available for orotic acid and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Topics: Citrulline; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Israel; Male; Neonatal Screen | 2021 |
Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency.
Topics: Ammonia; Animals; Child, Preschool; Disease Models, Animal; Female; Gene Expression Regulation; Hepa | 2021 |
Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes.
Topics: Adult; Aged; Ammonia; Animals; Cells, Cultured; Child; Disease Models, Animal; Female; Gene Editing; | 2021 |
Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.
Topics: Dried Blood Spot Testing; Humans; Infant, Newborn; Neonatal Screening; Ornithine Carbamoyltransferas | 2014 |
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency.
Topics: Biomarkers; Creatine; Creatinine; Filtration; Glycine; Humans; Hyperammonemia; Infant, Newborn; Orni | 2014 |
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
Topics: Adolescent; Adult; Child; Child, Preschool; Citrulline; Gas Chromatography-Mass Spectrometry; Humans | 2014 |
A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation.
Topics: Amino Acid Sequence; Amino Acids; Animals; Biological Transport; Body Weight; Brain; Disease Models, | 2015 |
[Report of a case with late-onset ornithine transcarbamylase deficiency with gas chromatography-mass spectrometry and DNA sequencing confirmation and literatures review].
Topics: Base Sequence; Brain Diseases; Child; Gas Chromatography-Mass Spectrometry; Genetic Testing; Humans; | 2015 |
Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
Topics: Fatal Outcome; Humans; Infant, Newborn; Male; Mutation; Ornithine Carbamoyltransferase; Ornithine Ca | 2016 |
Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors.
Topics: Adenoviridae; Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Genetic Therapy | 2008 |
In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver.
Topics: Adenoviridae; Animals; Blotting, Western; Disease Models, Animal; Enzyme Induction; Gene Expression; | 2009 |
AAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal Spf(ash) mice.
Topics: Animals; Animals, Newborn; Blotting, Western; Cell Line; Dependovirus; DNA, Complementary; Female; G | 2009 |
Induction and prevention of severe hyperammonemia in the spfash mouse model of ornithine transcarbamylase deficiency using shRNA and rAAV-mediated gene delivery.
Topics: 3' Untranslated Regions; Animals; Dependovirus; Disease Models, Animal; Gene Knockdown Techniques; G | 2011 |
[Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
Topics: Citrulline; DNA Mutational Analysis; Exons; Heterozygote; Humans; Infant, Newborn; Male; Ornithine C | 2011 |
Sustained correction of OTC deficiency in spf( ash) mice using optimized self-complementary AAV2/8 vectors.
Topics: Animals; Base Sequence; Conserved Sequence; Dependovirus; Disease Models, Animal; Genetic Therapy; G | 2012 |
Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome.
Topics: Adult; Animals; Dependovirus; Gene Expression; Genetic Therapy; Genetic Vectors; Humans; Liver; Mice | 2012 |
Rapid determination of orotic acid in urine by liquid chromatography-electrospray tandem mass spectrometry.
Topics: Child; Chromatography, Liquid; Humans; Male; Ornithine Carbamoyltransferase Deficiency Disease; Orot | 2003 |
A suspected case of ornithine transcarbamylase deficiency in a cat.
Topics: Alanine Transaminase; Animals; Aspartate Aminotransferases; Bile Acids and Salts; Cat Diseases; Cats | 2004 |
Urinary uracil in female patients with ornithine transcarbamylase deficiency.
Topics: Child, Preschool; Female; Heterozygote; Humans; Hyperammonemia; Infant; Ornithine Carbamoyltransfera | 2005 |
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Diagnosis, Differential; Fatal | 2006 |
Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors.
Topics: Ammonia; Animals; Behavior, Animal; Dependovirus; Female; Genetic Therapy; Genetic Vectors; Liver; M | 2006 |
Vector-related tumorigenesis not found in ornithine transcarbamylase-deficient mice.
Topics: Adenoviridae; Animals; Genetic Therapy; Genetic Vectors; Humans; Liver Neoplasms; Mice; Ornithine Ca | 2006 |
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency.
Topics: Adult; Arginine; Carcinoma, Hepatocellular; Citrulline; Female; Glutamine; Hepatic Encephalopathy; H | 2008 |
Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid.
Topics: Amniotic Fluid; Argininosuccinate Synthase; Chromatography, Liquid; Female; Gas Chromatography-Mass | 1984 |
Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Dietary Proteins; Female; Genetic Carrier Scre | 1984 |
Carrier detection in ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Aging; Ammonia; Child; Duodenum; Female; Genetic Carrier Screening; Humans; Ornit | 1982 |
Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis.
Topics: Adult; Amino Acids; Humans; Liver; Male; Mitochondria, Liver; Ornithine Carbamoyltransferase Deficie | 1983 |
Activity of orotate metabolizing enzyme complex and various urea-cycle enzymes in mutant mice with ornithine transcarbamylase deficiency.
Topics: Animals; Mice; Mice, Mutant Strains; Multienzyme Complexes; Ornithine Carbamoyltransferase Deficienc | 1982 |
[Changes of urinary excretion of orotic acid in a patient with ornithine carbamyl transferase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Female; Humans; Ornithine Carbamoyl | 1982 |
Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Benzoates; Benzoic Acid; Diet; Female; Gluta | 1982 |
Orotic acid in urine and hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Anion Exchange Resins; Humans; Ornithine Carbamoyltra | 1982 |
Carrier detection of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Female; Genet | 1981 |
Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Dietary Proteins; Female; Genetic Carrier Scre | 1980 |
Quantification of orotic acid in dried filter-paper urine samples by stable isotope dilution.
Topics: Adolescent; Adult; Aging; Child; Child, Preschool; Creatinine; Gas Chromatography-Mass Spectrometry; | 1995 |
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria.
Topics: Adenine Nucleotides; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Liver; Metabolism, Inborn Error | 1995 |
Importance of ornithine transcarbamylase (OTC) deficiency in small intestine for urinary orotic acid excretion: analysis of OTC-deficient spf-ash mice with OTC transgene.
Topics: Animals; Carbamyl Phosphate; Intestine, Small; Liver; Mice; Mice, Inbred C57BL; Mice, Transgenic; Ni | 1995 |
Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene.
Topics: Animals; Arginine; Citrulline; Crosses, Genetic; Disease Models, Animal; Female; Genetic Linkage; Ha | 1994 |
Determination of orotic acid in urine.
Topics: Animals; Chromatography, Ion Exchange; Female; Humans; Lipid Metabolism, Inborn Errors; Male; Mice; | 1994 |
The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency.
Topics: Adolescent; Adult; Allopurinol; Chromatography, High Pressure Liquid; Female; Genetic Carrier Screen | 1994 |
The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk.
Topics: Adolescent; Adult; Allopurinol; Child; Female; Heterozygote; Humans; Middle Aged; Ornithine Carbamoy | 1994 |
The effects of various inhibitors on the regulation of orotic acid excretion in sparse-fur mutant mice (spf/Y) deficient in ornithine transcarbamylase.
Topics: Adenine; Animals; Antimetabolites; Aspartic Acid; Creatinine; Cycloheximide; Injections, Intraperito | 1993 |
Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism.
Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenases; Ammonia; Animals; Butyryl-CoA Dehydrogenase; Crosses, Gene | 1993 |
Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes.
Topics: Adenoviridae; Animals; Disease Models, Animal; Gene Expression; Genetic Therapy; Genetic Vectors; Hu | 1996 |
Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors.
Topics: Adenoviridae; Amino Acid Metabolism, Inborn Errors; Animals; Crosses, Genetic; Cytomegalovirus; Fema | 1996 |
Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.
Topics: Absorption; Ammonia; Arginine; Child, Preschool; Citrulline; Diagnosis, Differential; Dietary Protei | 1996 |
The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Animals; Avoidance Learning; Crosses, Ge | 1995 |
A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Binding Sites; Child, Preschool; Codon, Terminator; D | 1996 |
Correction of ornithine transcarbamylase deficiency in adult spf(ash) mice and in OTC-deficient human hepatocytes with recombinant adenoviruses bearing the CAG promoter.
Topics: Actins; Adenoviridae; Amino Acid Metabolism, Inborn Errors; Animals; Antibodies; Cells, Cultured; Di | 1996 |
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
Topics: Allopurinol; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Female; Glutamine; | 1996 |
No increase of ornithine concentration in the liver of ornithine transcarbamylase-deficient spf-ash mice following intraperitoneal injection of ammonium chloride.
Topics: Ammonia; Ammonium Chloride; Animals; Arginine; Citrulline; Liver; Mice; Mice, Inbred Strains; Mice, | 1997 |
High-performance liquid chromatographic determination of orotic acid as its methyl derivative in human urine.
Topics: Adult; Breast Feeding; Chromatography, High Pressure Liquid; Creatinine; Female; Humans; Infant Food | 1997 |
Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil.
Topics: Female; Genetic Carrier Screening; Humans; Models, Biological; Ornithine Carbamoyltransferase Defici | 2000 |
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants.
Topics: Adolescent; Adult; Age Factors; Allopurinol; Child; Child, Preschool; Dose-Response Relationship, Dr | 2000 |
Ornithine carbamoyltransferase deficiency presenting with chorea in a female.
Topics: Alanine; Chorea; Female; Glutamine; Humans; Infant; Ornithine Carbamoyltransferase Deficiency Diseas | 2000 |
Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency.
Topics: Adult; Amino Acids; Child; Female; Heterozygote; Humans; Liver Transplantation; Living Donors; Ornit | 2001 |
Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individuals.
Topics: Adult; Child; Child, Preschool; Circadian Rhythm; Female; Humans; Infant; Male; Ornithine Carbamoylt | 2001 |
Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
Topics: Allopurinol; Child; False Negative Reactions; Female; Genetic Carrier Screening; Humans; Mutation; O | 2001 |
A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency.
Topics: Adenoviruses, Human; Adolescent; Adult; Aged; Amino Acids; Ammonia; Female; Gene Transfer Techniques | 2002 |
Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.
Topics: Alleles; Animals; Female; Genes; Genetic Linkage; Heterozygote; Hydrogen-Ion Concentration; Male; Mi | 1976 |
New pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Citrulline; Dietary Proteins; Hippu | 1979 |
Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency.
Topics: Allopurinol; Child; Child, Preschool; Chromatography, High Pressure Liquid; Deoxycytidine; Humans; I | 1979 |
Ornithine transcarbamylase deficiency in mutant mice I. Studies on the characterization of enzyme defect and suitability as animal model of human disease.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Creatinine; Disease Models, Animal; Female; Liver; Ma | 1979 |
Carrier detection in ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Ammonia; Child; Child, Preschool; Dietary Proteins; Female; Heterozygote; Humans; | 1978 |
[A new family with mutation of the structural gene of human ornithine carbamoyltransferase].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Genes; Heterozygote; Humans; Infant, Newborn; Male; M | 1978 |
Treatment of complete ornithine transcarbamylase deficiency with nitrogen-free analogues of essential amino acids.
Topics: Amino Acids; Amino Acids, Essential; Ammonia; Child Development; Dietary Proteins; Energy Intake; Gr | 1978 |
Study of enzyme defect in a case of ornithine transcarbamylase deficiency.
Topics: Ammonia; Child; Female; Humans; Kinetics; Liver; Ornithine Carbamoyltransferase; Ornithine Carbamoyl | 1978 |
[Trial of detection of female carriers for the ornithine-carbamyltransferase deficiency by the urine assay of crotic acid. Apropos of a family study].
Topics: Ammonia; Creatinine; Cytoplasm; Female; Genealogy and Heraldry; Genetic Counseling; Heterozygote; Hu | 1975 |
[Detection of female carriers of ornithine-carbamyl-transferase deficiency by measurement of orotic acid in the urine].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Male; Ornithine Carbamoyltransferase Deficienc | 1975 |
[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].
Topics: Alanine; Amino Acids; Ammonia; Child, Preschool; Dietary Proteins; Erythrocytes; Growth Disorders; H | 1975 |
Allopurinol challenge test in children.
Topics: Adolescent; Aging; Allopurinol; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Male; M | 1992 |
Ornithine carbamoyltransferase deficiency with subnormal enzyme activity.
Topics: Ammonia; Humans; Infant; Liver; Male; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1991 |
Reference values of orotic acid, uracil and pseudouridine in urine.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Hi | 1991 |
Heterogeneity of patients with late onset ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Age Factors; Ammonia; Child; Child, Preschool; Female; Genetic Variation; Glutami | 1991 |
Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching.
Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Humans; In | 1991 |
A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.
Topics: Alleles; Amino Acid Sequence; Arginine; Base Sequence; Exons; Genotype; Heterozygote; Humans; Infant | 1991 |
Quantitative analysis of urinary pyroglutamic acid in patients with hyperammonemia.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate S | 1991 |
Ornithine transcarbamylase deficiency in male adolescence and adulthood.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Glutamine-H | 1990 |
Rett's syndrome and ornithine carbamoyltransferase deficiency.
Topics: Alanine; Ammonia; Female; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Re | 1990 |
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.
Topics: Bayes Theorem; Female; Genetic Carrier Screening; Genetic Linkage; Humans; Male; Mutation; Ornithine | 1990 |
Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.
Topics: Adult; Allopurinol; Chromatography, High Pressure Liquid; Female; Genetic Carrier Screening; Heteroz | 1990 |
False positive alanine tolerance test results in heterozygote detection of urea cycle disorders.
Topics: Alanine; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1989 |
DNA analysis of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; DNA; Female; Genetic Carrier Screen | 1988 |
[Genetic counseling in ornithine carbamoyltransferase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Chromosome Mapping; Female; Genetic Carrier Screening | 1988 |
Lethal hyperammonaemic coma due to ornithine transcarbamylase deficiency presenting as brain stem encephalitis in a previously asymptomatic ten-year-old boy.
Topics: Ammonia; Brain Stem; Child; Citrulline; Coma; Diagnosis, Differential; Encephalitis; Humans; Male; O | 1987 |
Ornithine transcarbamylase variant in a male patient.
Topics: Amino Acids; Ammonia; Citrulline; Dietary Proteins; Genetic Variation; Humans; Hydrogen-Ion Concentr | 1987 |
Lethal ornithine transcarbamylase deficiency in a female neonate.
Topics: Ammonia; Arginine; Citrulline; Coma; Female; Humans; Infant, Newborn; Ornithine Carbamoyltransferase | 1987 |
The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice.
Topics: Animals; Creatinine; Fatty Liver; Female; Genotype; Liver; Mice; Mice, Mutant Strains; Mitochondria, | 1986 |
[Variability of enzyme activity and urinary orotic acid in ornithine transcarbamylase deficient spf/+ heterozygotic mice].
Topics: Animals; Female; Heterozygote; Liver; Male; Mice; Ornithine Carbamoyltransferase; Ornithine Carbamoy | 1986 |
Effect of partial ornithine carbamoyltransferase deficiency on urea synthesis and related biochemical events.
Topics: Alanine; Ammonia; Child; Female; Humans; Kinetics; Male; Ornithine Carbamoyltransferase Deficiency D | 1987 |
Natural history of symptomatic partial ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Ataxia; Child, Preschool; Coma; Diagnosis, Differenti | 1986 |
The diagnosis of ornithine transcarbamylase deficiency.
Topics: Animals; Carbamyl Phosphate; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Intellectual | 1985 |
Transient hyperammonemia during aging in ornithine transcarbamylase-deficient, sparse-fur mice.
Topics: Aging; Ammonia; Animals; Body Weight; Disease Models, Animal; Hair; Liver; Mice; Mice, Mutant Strain | 1985 |