urea has been researched along with Amino Acid Metabolism Disorders, Inborn in 209 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH)-syndrome is a rare autosomal recessive disorder of the urea cycle, probably caused by a defect in ornithine transport across the hepatic inner mitochondrial membrane." | 7.69 | Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome. ( Haust, MD, 1995) |
| "The relative effectiveness of exchange transfusion, peritoneal dialysis, arginine, and sodium benzoate was evaluated during 44 episodes of hyperammonemic coma in 31 patients with congenital urea cycle enzymopathies." | 7.66 | Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. ( Batshaw, ML; Brusilow, SW, 1980) |
| "The capacity of arginase-deficient erythrocytes of patients with familial hyperargininemia to produce urea and to catabolize arginine can be increased in vitro by introducing human liver arginase into their erythrocytes." | 7.65 | Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia. ( Adriaenssens, K; Karcher, D; Lowenthal, A; Terheggen, HG, 1976) |
| "Ornithine transcarbamylase deficiency is the most common inherited urea cycle disorder." | 6.43 | [Hyperammonemia type II as an example of urea cycle disorder]. ( Duława, J; Hawrot-Kawecka, AM; Kawecki, GP, 2006) |
| "We report the results of a 25-year, open-label, uncontrolled study of sodium phenylacetate and sodium benzoate therapy (Ammonul, Ucyclyd Pharma) in 299 patients with urea-cycle disorders in whom there were 1181 episodes of acute hyperammonemia." | 5.12 | Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. ( Berry, GT; Berry, SA; Brusilow, SW; Enns, GM; Hamosh, A; Rhead, WJ, 2007) |
| "The urea cycle disorders (UCDs) represent a group of inherited metabolic diseases with hyperammonemia as the primary laboratory abnormality." | 4.81 | Laboratory evaluation of urea cycle disorders. ( Cederbaum, SD; Steiner, RD, 2001) |
| " Specific illustrative inborn errors of metabolism are discussed (aminoacidemias, urea cycle defects, organic acidemias, fatty acid oxidation defects, disorders of carbohydrate metabolism, lysosomal storage disorders) in light of potential problems encountered in adolescence and adulthood, including issues involving pregnancy and long-term medical, psychosocial, and psychiatric complications." | 4.81 | The adolescent with an inborn error of metabolism: medical issues and transition to adulthood. ( Enns, GM; Packman, W, 2002) |
| "Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH)-syndrome is a rare autosomal recessive disorder of the urea cycle, probably caused by a defect in ornithine transport across the hepatic inner mitochondrial membrane." | 3.69 | Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome. ( Haust, MD, 1995) |
| " L-Carnitine was used at doses of 2, 4, 8, or 16 mmol/kg body weight (BW), and levels of ammonia, glutamine, glutamate, and some intermediates of energy metabolism were measured in brain and liver of spf/Y mice." | 3.68 | Effect of L-carnitine on cerebral and hepatic energy metabolites in congenitally hyperammonemic sparse-fur mice and its role during benzoate therapy. ( Butterworth, RF; Qureshi, IA; Ratnakumari, L, 1993) |
| "We studied 26 children with inborn errors of urea synthesis who survived neonatal hyperammonemic coma." | 3.67 | Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. ( Batshaw, ML; Brusilow, SW; Mellits, ED; Msall, M; Suss, R, 1984) |
| "Children with inborn errors of urea synthesis accumulate ammonium and other nitrogenous precursors of urea, leading to episodic coma and a high mortality rate." | 3.66 | Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. ( Batshaw, ML; Blom, W; Brubakk, AM; Brusilow, S; Burton, BK; Cann, HM; Kerr, D; Mamunes, P; Matalon, R; Myerberg, D; Schafer, IA; Waber, L, 1982) |
| "The relative effectiveness of exchange transfusion, peritoneal dialysis, arginine, and sodium benzoate was evaluated during 44 episodes of hyperammonemic coma in 31 patients with congenital urea cycle enzymopathies." | 3.66 | Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. ( Batshaw, ML; Brusilow, SW, 1980) |
| "Urea cycle disorders and other hyperammonemic syndromes should be considered in the differential diagnosis in newborns with a history of severe vomiting, lethargy, and seizures, and in infants with feeding problems, episodic vomiting, and altered consciousness." | 3.65 | Congenital hyperammonemic syndromes. ( Shih, VE, 1976) |
| "The capacity of arginase-deficient erythrocytes of patients with familial hyperargininemia to produce urea and to catabolize arginine can be increased in vitro by introducing human liver arginase into their erythrocytes." | 3.65 | Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia. ( Adriaenssens, K; Karcher, D; Lowenthal, A; Terheggen, HG, 1976) |
| "Ornithine transcarbamylase deficiency is the most common inherited urea cycle disorder." | 2.43 | [Hyperammonemia type II as an example of urea cycle disorder]. ( Duława, J; Hawrot-Kawecka, AM; Kawecki, GP, 2006) |
| " This involves the long-term use of oral sodium phenylbutyrate, arginine supplements, or both, depending on the specific enzyme deficiency, and treatment of acute hyperammonemic crises with intravenous sodium benzoate/sodium phenylacetate plus arginine." | 2.41 | Alternative pathway therapy for urea cycle disorders: twenty years later. ( Batshaw, ML; MacArthur, RB; Tuchman, M, 2001) |
| "Propionic acidemia is an inborn error of metabolism caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase that converts the propionyl CoA to methyl malonyl CoA." | 1.72 | Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology. ( Arrieta, F; Belanger-Quintana, A; Del Valle, M; Fernandez-Felix, BM; Garcia, F; Martinez-Pardo, M; Ruiz-Sala, P; Stanescu, S, 2022) |
| "One patient with OTC deficiency has had a liver transplant." | 1.35 | Hereditary urea cycle diseases in Finland. ( Keskinen, P; Salo, M; Siitonen, A, 2008) |
| "The Slc7a7(-/-) mouse displayed intrauterine growth restriction (IUGR), commonly leading to neonatal lethality." | 1.34 | Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. ( Andria, G; Annunziata, P; Ballabio, A; Borsani, G; Bozzato, A; Corso, G; D'Armiento, M; Maiuri, L; Piccolo, P; Sebastio, G; Sperandeo, MP, 2007) |
| "Urea cycle defect is an inborn error of ammonium metabolism caused by a deficient activity of the enzymes involved in urea synthesis." | 1.31 | Localized proton MR spectroscopy in infants with urea cycle defect. ( Choi, CG; Yoo, HW, 2001) |
| "By far the most common disorder was OTC deficiency, accounting for 2/3 of all cases." | 1.30 | Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. ( Endo, F; Matsuda, I; Uchino, T, 1998) |
| "Initial symptoms of OTC deficiency were nonspecific and included feeding difficulties, lethargy, and "respiratory distress"; vomiting was infrequent." | 1.30 | Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. ( Brusilow, SW; Clissold, D; Maestri, NE, 1999) |
| "Orotic aciduria is a reliable indicator of the function of the urea cycle in lysinuric protein intolerance and facilitates monitoring of the treatment of this disease." | 1.26 | Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. ( Rajantie, J, 1981) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 129 (61.72) | 18.7374 |
| 1990's | 34 (16.27) | 18.2507 |
| 2000's | 38 (18.18) | 29.6817 |
| 2010's | 5 (2.39) | 24.3611 |
| 2020's | 3 (1.44) | 2.80 |
| Authors | Studies |
|---|---|
| Stanescu, S | 1 |
| Belanger-Quintana, A | 1 |
| Fernandez-Felix, BM | 1 |
| Ruiz-Sala, P | 1 |
| Del Valle, M | 1 |
| Garcia, F | 1 |
| Arrieta, F | 1 |
| Martinez-Pardo, M | 1 |
| Belanger, AJ | 1 |
| Gefteas, E | 1 |
| Przybylska, M | 1 |
| Geller, S | 1 |
| Anarat-Cappillino, G | 1 |
| Kloss, A | 1 |
| Yew, NS | 1 |
| Spada, M | 1 |
| Porta, F | 1 |
| Righi, D | 1 |
| Gazzera, C | 1 |
| Tandoi, F | 1 |
| Ferrero, I | 1 |
| Fagioli, F | 1 |
| Sanchez, MBH | 1 |
| Calvo, PL | 1 |
| Biamino, E | 1 |
| Bruno, S | 1 |
| Gunetti, M | 1 |
| Contursi, C | 1 |
| Lauritano, C | 1 |
| Conio, A | 1 |
| Amoroso, A | 1 |
| Salizzoni, M | 1 |
| Silengo, L | 1 |
| Camussi, G | 1 |
| Romagnoli, R | 1 |
| Jáčová, J | 1 |
| Jořenek, M | 1 |
| Pospíšková, K | 1 |
| Najdekr, L | 1 |
| Zajoncová, L | 1 |
| Friedecký, D | 1 |
| Adam, T | 1 |
| MacLeod, EL | 1 |
| Hall, KD | 1 |
| McGuire, PJ | 1 |
| Posset, R | 1 |
| Garcia-Cazorla, A | 1 |
| Valayannopoulos, V | 1 |
| Teles, EL | 1 |
| Dionisi-Vici, C | 1 |
| Brassier, A | 1 |
| Burlina, AB | 1 |
| Burgard, P | 1 |
| Cortès-Saladelafont, E | 1 |
| Dobbelaere, D | 2 |
| Couce, ML | 1 |
| Sykut-Cegielska, J | 1 |
| Häberle, J | 1 |
| Lund, AM | 1 |
| Chakrapani, A | 1 |
| Schiff, M | 1 |
| Walter, JH | 2 |
| Zeman, J | 1 |
| Vara, R | 1 |
| Kölker, S | 1 |
| Soares, MS | 1 |
| Oliveira, PS | 1 |
| Debom, GN | 1 |
| da Silveira Mattos, B | 1 |
| Polachini, CR | 1 |
| Baldissarelli, J | 1 |
| Morsch, VM | 1 |
| Schetinger, MR | 1 |
| Tavares, RG | 1 |
| Stefanello, FM | 1 |
| Spanevello, RM | 1 |
| Tuchman, M | 4 |
| Lee, B | 9 |
| Lichter-Konecki, U | 1 |
| Summar, ML | 5 |
| Yudkoff, M | 4 |
| Cederbaum, SD | 6 |
| Kerr, DS | 1 |
| Diaz, GA | 1 |
| Seashore, MR | 1 |
| Lee, HS | 1 |
| McCarter, RJ | 1 |
| Krischer, JP | 1 |
| Batshaw, ML | 14 |
| Keskinen, P | 1 |
| Siitonen, A | 1 |
| Salo, M | 1 |
| Brusilow, S | 4 |
| Scholl-Bürgi, S | 1 |
| Sass, JO | 1 |
| Zschocke, J | 1 |
| Karall, D | 1 |
| Reid Sutton, V | 1 |
| Pan, Y | 1 |
| Davis, EC | 1 |
| Craigen, WJ | 1 |
| Lukkarinen, M | 2 |
| Näntö-Salonen, K | 2 |
| Pulkki, K | 2 |
| Aalto, M | 1 |
| Simell, O | 6 |
| CONSTANTSAS, NS | 1 |
| DANELATOU-ATHANASSIADOU, C | 1 |
| MCMURRAY, WC | 2 |
| MOHYUDDIN, F | 2 |
| RATHBUN, JC | 2 |
| Bachmann, C | 6 |
| Parker, CC | 1 |
| Evans, OB | 1 |
| Gyato, K | 1 |
| Wray, J | 1 |
| Huang, ZJ | 1 |
| Scaglia, F | 1 |
| Carter, S | 1 |
| O'Brien, WE | 3 |
| Arias, A | 1 |
| Garcia-Villoria, J | 1 |
| Ribes, A | 1 |
| Singh, RH | 4 |
| Rhead, WJ | 5 |
| Sniderman King, L | 4 |
| Smith, W | 4 |
| Summar, M | 4 |
| Kishnani, PS | 1 |
| Smith, M | 1 |
| Hawrot-Kawecka, AM | 1 |
| Kawecki, GP | 1 |
| Duława, J | 1 |
| Sperandeo, MP | 1 |
| Annunziata, P | 1 |
| Bozzato, A | 1 |
| Piccolo, P | 1 |
| Maiuri, L | 1 |
| D'Armiento, M | 1 |
| Ballabio, A | 1 |
| Corso, G | 1 |
| Andria, G | 1 |
| Borsani, G | 1 |
| Sebastio, G | 1 |
| Nordenström, A | 1 |
| Halldin, M | 1 |
| Hallberg, B | 1 |
| Alm, J | 1 |
| Enns, GM | 2 |
| Berry, SA | 1 |
| Berry, GT | 3 |
| Brusilow, SW | 14 |
| Hamosh, A | 1 |
| Shih, VE | 2 |
| Levin, B | 7 |
| Russell, A | 1 |
| Morrow, G | 2 |
| Barness, LA | 1 |
| Efron, ML | 1 |
| Wu, WK | 1 |
| Kekomäki, M | 3 |
| Visakorpi, JK | 3 |
| Perheentupa, J | 6 |
| Saxén, L | 1 |
| Räihä, NC | 1 |
| Mowat, AP | 1 |
| Barela, TD | 1 |
| Johnson, JD | 1 |
| Hayek, A | 1 |
| Visek, WJ | 1 |
| Rajantie, J | 3 |
| Danney, M | 1 |
| Waber, LJ | 1 |
| Batshaw, M | 4 |
| Burton, B | 1 |
| Levitsky, L | 1 |
| Roth, K | 1 |
| McKeethren, C | 1 |
| Ward, J | 1 |
| Naughten, ER | 1 |
| Flavin, MP | 1 |
| O'Brien, NG | 1 |
| Jaeken, J | 1 |
| Devlieger, H | 1 |
| Evens, M | 1 |
| Casaer, P | 1 |
| Eggermont, E | 1 |
| Plöchl, E | 2 |
| Coude, FX | 2 |
| Coude, M | 1 |
| Grimber, G | 1 |
| Pelet, A | 1 |
| Charpentier, C | 2 |
| Msall, M | 2 |
| Suss, R | 1 |
| Mellits, ED | 1 |
| Trauner, DA | 1 |
| Self, TW | 1 |
| Walser, M | 3 |
| Wellner, D | 1 |
| Meister, A | 1 |
| Naylor, EW | 3 |
| Spector, EB | 3 |
| Mazzocchi, RA | 1 |
| Yoshino, M | 3 |
| Yoshida, I | 2 |
| Yamashita, F | 3 |
| Mori, M | 1 |
| Uchiyama, C | 1 |
| Tatibana, M | 1 |
| Colombo, JP | 9 |
| Waber, L | 1 |
| Blom, W | 1 |
| Brubakk, AM | 2 |
| Burton, BK | 2 |
| Cann, HM | 1 |
| Kerr, D | 1 |
| Mamunes, P | 1 |
| Matalon, R | 1 |
| Myerberg, D | 1 |
| Schafer, IA | 2 |
| del Valle, JA | 1 |
| Urbón, A | 1 |
| García, MJ | 1 |
| Cuadrado, P | 1 |
| Ugarte, M | 1 |
| Kanalas, JJ | 1 |
| Bohan, TP | 1 |
| Roe, CR | 1 |
| Talbot, HW | 1 |
| Sumlin, AB | 1 |
| Guthrie, R | 1 |
| Terheggen, HG | 3 |
| Lowenthal, A | 3 |
| Kubota, K | 1 |
| Murakami, T | 1 |
| Sakaguchi, Y | 1 |
| Yuge, K | 1 |
| Hashimoto, T | 1 |
| Saudubray, JM | 4 |
| Ogier, H | 2 |
| Cathelineau, L | 1 |
| Briand, P | 1 |
| Tada, K | 1 |
| Tateda, H | 1 |
| Metoki, K | 1 |
| Lemieux, B | 1 |
| Auray-Blais, C | 1 |
| Giguère, R | 1 |
| Nyhan, WL | 1 |
| Rubio, V | 1 |
| Jordá, A | 1 |
| Grisolia, S | 1 |
| Gutierez, F | 1 |
| Canosa, C | 1 |
| Jaggi, K | 1 |
| Saheki, T | 7 |
| Ueda, A | 1 |
| Hosoya, M | 1 |
| Sase, M | 2 |
| Nakano, K | 2 |
| Katsunuma, T | 2 |
| Matsuda, Y | 2 |
| Tsuji, A | 2 |
| Katunuma, N | 2 |
| Schuchmann, L | 1 |
| Fischer, H | 1 |
| Qureshi, IA | 3 |
| Letarte, J | 1 |
| Ouellet, R | 1 |
| Lelièvre, M | 1 |
| Laberge, C | 1 |
| Koch, R | 2 |
| Snodgrass, PJ | 3 |
| Snyderman, SE | 2 |
| Thomas, GH | 1 |
| Goodman, SI | 1 |
| Ng, WG | 1 |
| Oizumi, J | 1 |
| Shaw, KN | 3 |
| McLaren, J | 1 |
| Donnel, GN | 1 |
| Carter, M | 1 |
| Hoogenraad, NJ | 1 |
| Mitchell, JD | 1 |
| Don, NA | 1 |
| Sutherland, TM | 1 |
| Mc Leay, AC | 1 |
| Tsuda, M | 1 |
| Takada, S | 1 |
| Kusumi, K | 1 |
| Jan, D | 3 |
| Laurent, J | 3 |
| Lacaille, F | 1 |
| Jouvet, P | 3 |
| Poggi, F | 2 |
| Rabier, D | 4 |
| Beringer, A | 2 |
| Flandin-Blety, C | 1 |
| Niaudet, P | 1 |
| Hubert, P | 2 |
| Ratnakumari, L | 1 |
| Butterworth, RF | 1 |
| Revillon, Y | 2 |
| Tamura, S | 1 |
| Kawata, S | 1 |
| Fukuda, K | 1 |
| Inui, Y | 1 |
| Kakimoto, H | 1 |
| Ishiguro, H | 1 |
| Namba, M | 1 |
| Kono, N | 1 |
| Matsuzawa, Y | 1 |
| Miga, DE | 1 |
| Roth, KS | 1 |
| Kazmierczak, SC | 1 |
| Tazawa, Y | 1 |
| Maestri, NE | 4 |
| Feoli-Fonseca, JC | 1 |
| Lambert, M | 1 |
| Mitchell, G | 1 |
| Melançon, SB | 1 |
| Dallaire, L | 1 |
| Millington, DS | 1 |
| Haust, MD | 1 |
| Daikhin, Y | 2 |
| Nissim, I | 1 |
| Jawad, A | 1 |
| Wilson, J | 1 |
| Ye, X | 1 |
| Wilson, JM | 1 |
| Feillet, F | 1 |
| Leonard, JV | 3 |
| Whitington, PF | 1 |
| Alonso, EM | 1 |
| Boyle, JT | 1 |
| Molleston, JP | 1 |
| Rosenthal, P | 1 |
| Emond, JC | 1 |
| Millis, JM | 1 |
| Patejunas, G | 1 |
| Dennis, JA | 1 |
| Healy, PJ | 1 |
| Reeds, PJ | 1 |
| Yu, H | 1 |
| Frazer, M | 1 |
| Mull, B | 1 |
| Warman, AW | 1 |
| Beaudet, AL | 2 |
| Uchino, T | 1 |
| Endo, F | 1 |
| Matsuda, I | 1 |
| Busuttil, AA | 1 |
| Goss, JA | 1 |
| Seu, P | 1 |
| Dulkanchainun, TS | 1 |
| Yanni, GS | 1 |
| McDiarmid, SV | 1 |
| Busuttil, RW | 1 |
| Bik-Multanowski, M | 1 |
| Thoene, JG | 1 |
| Clissold, D | 1 |
| Kobayashi, K | 5 |
| Sinasac, DS | 1 |
| Iijima, M | 1 |
| Boright, AP | 1 |
| Begum, L | 1 |
| Lee, JR | 1 |
| Yasuda, T | 1 |
| Ikeda, S | 1 |
| Hirano, R | 1 |
| Terazono, H | 1 |
| Crackower, MA | 1 |
| Kondo, I | 1 |
| Tsui, LC | 1 |
| Scherer, SW | 1 |
| Li, MX | 1 |
| Nakajima, T | 1 |
| Fukushige, T | 1 |
| Seiler, N | 1 |
| Touati, G | 1 |
| Delonlay, P | 1 |
| Narcy, C | 1 |
| Kamoun, P | 2 |
| Mattila, K | 1 |
| Matsumura, R | 1 |
| Yu, B | 1 |
| Howell, PL | 1 |
| Steiner, RD | 2 |
| MacArthur, RB | 1 |
| Goss, J | 1 |
| Cederbaum, JA | 1 |
| LeMons, C | 1 |
| Rosen, M | 1 |
| Ahrens, M | 1 |
| Vonachen, S | 1 |
| Yu, X | 1 |
| Thompson, MM | 1 |
| Shi, D | 1 |
| Choi, CG | 1 |
| Yoo, HW | 1 |
| Schulze, A | 1 |
| Ebinger, F | 1 |
| Rating, D | 1 |
| Mayatepek, E | 1 |
| Jung, P | 1 |
| Doussard-Lefaucheux, S | 1 |
| Packman, W | 1 |
| Mahoney, MJ | 1 |
| Shapiro, LJ | 1 |
| Bocian, ME | 1 |
| Raijman, L | 1 |
| Moser, HW | 1 |
| Murray, C | 1 |
| Braine, H | 1 |
| Glick, NR | 1 |
| Böhles, H | 1 |
| Harms, D | 1 |
| Heid, H | 1 |
| Sitzmann, FC | 1 |
| Fekl, W | 1 |
| Teijema, HL | 1 |
| van Gelderen, HH | 1 |
| Ruys, JH | 1 |
| Hayashi, M | 1 |
| Takahashi, Y | 1 |
| Sherwood, G | 1 |
| Robinson, B | 1 |
| Kuchel, PW | 1 |
| Roberts, DV | 1 |
| Nichol, LW | 1 |
| Hambraeus, L | 1 |
| Hardell, LI | 1 |
| Ellingsen, E | 1 |
| Perry, TL | 1 |
| Hansen, S | 1 |
| MacLean, J | 1 |
| van der Heiden, C | 1 |
| Gerards, LJ | 1 |
| van Biervliet, JP | 1 |
| Desplanque, J | 1 |
| de Bree, PK | 1 |
| van Sprang, FJ | 1 |
| Wadman, SK | 1 |
| Burgess, EA | 1 |
| Oberholzer, VG | 2 |
| Palmer, T | 2 |
| Rapola, J | 1 |
| Eskelin, LE | 1 |
| Lockridge, O | 1 |
| Bloom, AD | 1 |
| Adriaenssens, K | 1 |
| Karcher, D | 1 |
| Kamoun, PP | 1 |
| McGowan, KD | 1 |
| Hauser, ER | 1 |
| Bartholomew, D | 1 |
| Mamourian, AC | 1 |
| du Plessis, A | 1 |
| Shindo, K | 1 |
| Tsunoda, S | 1 |
| Shiozawa, Z | 1 |
| Nakanishi, T | 1 |
| Shimizu, A | 1 |
| Saiki, K | 1 |
| Fujiwara, F | 1 |
| Funahashi, S | 1 |
| Hayashi, A | 1 |
| Lyonnet, S | 1 |
| Lombes, A | 1 |
| Hervé, F | 1 |
| Bonnefont, JP | 1 |
| Munnich, A | 1 |
| Bourrier, P | 1 |
| Varache, N | 1 |
| Alquier, P | 1 |
| Lorre, G | 1 |
| Alhayek, G | 1 |
| Sipilä, I | 1 |
| Valle, DL | 1 |
| Monahan, PS | 1 |
| Chapanis, N | 1 |
| Inoue, I | 2 |
| Ichiki, H | 1 |
| Matuo, S | 1 |
| Tatsuno, M | 1 |
| Imamura, Y | 1 |
| Noda, T | 1 |
| Hagihara, S | 1 |
| Irons, M | 1 |
| Levy, HL | 2 |
| Jackson, MJ | 1 |
| Itakura, Y | 1 |
| Oyanagi, K | 1 |
| Okamoto, R | 1 |
| Mino, M | 1 |
| Kardosová, A | 1 |
| Hruskovic, I | 1 |
| Strnová, J | 1 |
| Hudak, ML | 1 |
| Jones, MD | 1 |
| Ratner, S | 1 |
| Scott-Emuakpor, AB | 1 |
| Frimpter, GW | 1 |
| Martin, JJ | 2 |
| Schlote, W | 2 |
| Hooft, C | 2 |
| Carton, D | 2 |
| Campbell, AG | 1 |
| Rosenberg, LE | 1 |
| Nuzum, CT | 1 |
| Valente, M | 1 |
| Cotton, ME | 1 |
| Heathcote, JG | 3 |
| Davies, DM | 3 |
| Wick, H | 1 |
| Baumgartner, R | 1 |
| Brechbühler, T | 1 |
| Wiesmann, U | 1 |
| Mihatsch, MJ | 1 |
| Ohnacker, H | 1 |
| Buist, NR | 1 |
| Kennaway, NG | 1 |
| Hepburn, CA | 1 |
| Strandholm, JJ | 1 |
| Ramberg, DA | 1 |
| Danks, DM | 1 |
| Tippett, P | 1 |
| Zentner, G | 1 |
| Crane, CW | 2 |
| Jenner, FA | 2 |
| Pollitt, RJ | 1 |
| Giliberti, P | 1 |
| Niederwieser, A | 1 |
| Brown, JH | 1 |
| Fabre, LF | 1 |
| Farrell, GL | 1 |
| Adams, ED | 1 |
| Sunshine, P | 1 |
| Lindenbaum, JE | 1 |
| Freeman, JM | 1 |
| Eldjarn, L | 1 |
| Jellum, E | 1 |
| Stokke, O | 1 |
| Berenberg, W | 1 |
| Kang, ES | 1 |
| Menkes, JH | 1 |
| Haworth, C | 2 |
| Norio, R | 1 |
| Schwenk, A | 1 |
| van Sande, M | 1 |
| Jagenburg, R | 2 |
| Lindstedt, G | 2 |
| Malmquist, J | 2 |
| Oliver, RW | 1 |
| Vidailhet, M | 1 |
| Dautrevaux, M | 1 |
| Paysant, P | 1 |
| Gelot, S | 1 |
| Badonnel, Y | 1 |
| Pierson, M | 1 |
| Neimann, N | 1 |
| Harmeyer, J | 1 |
| Plonait, H | 1 |
| Dobbs, RH | 1 |
| Stein, IM | 1 |
| Cohen, BD | 1 |
| Kornhauser, RS | 1 |
| Gay, WM | 1 |
| De Schrijver, F | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Longitudinal Study of Urea Cycle Disorders[NCT00237315] | 1,009 participants (Anticipated) | Observational | 2006-02-28 | Recruiting | |||
| Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy[NCT00472732] | 46 participants (Actual) | Observational | 2007-03-31 | Completed | |||
| A Phase 2, Open-Label, Switch-Over, Dose-Escalation Study of the Safety and Tolerability of HPN-100 Compared to Buphenyl® (Sodium Phenylbutyrate) in Patients With Urea Cycle Disorders[NCT00551200] | Phase 2 | 14 participants (Actual) | Interventional | 2007-10-31 | Completed | ||
| The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity[NCT01421888] | 4 participants (Actual) | Observational | 2011-08-08 | Terminated | |||
| A Randomized, Double-Blind, Crossover Study of Sodium Phenylbutyrate and Low-Dose Arginine Compared to High-Dose Arginine Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients With Argininosuccinic Aciduria[NCT00345605] | Phase 2 | 12 participants (Actual) | Interventional | 2008-02-29 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
Measure of white matter integrity in OTCD Patients and Controls in frontal white matter. Fractional anisotropy values fall on a scale of 0 to 1, with 0 meaning that the diffusion of water is isotropic and unrestricted, or equally restricted, in all directions and with 1 meaning that diffusion occurs along only one axis and is fully restricted along all other directions. Scores closer to 1 are associated with intact white matter while scores closer to 0 are associated with white matter damage. (NCT00472732)
Timeframe: one time measurement at study baseline
| Intervention | units on a scale (Mean) |
|---|---|
| OTCD Patients | 0.247 |
| Healthy Controls | 0.274 |
"Concentration based on area under curve on 1H MRS and quantitated by LCModel. A metabolite's tissue concentration is related to the integrated amplitude of the MRS signal it produces. Integrated amplitude is the area under the MRS signal curve. While MRS signals are usually acquired in the time domain as free induction decays or echoes, they are usually viewed and analyzed in the frequency domain. The frequency domain representation is derived from the acquired time domain data by the Fourier Transform. The protocol we use selects 257 averages. This means, 257 free induction decays. The machine summates the data at each time point to generate one value for the area under the curve. Therefore, we don't have the measurement at each time point.~Furthermore, we measured voxels in two different brain areas containing different kinds of brain matter: one voxel was located in posterior cingulate gray matter (PCGM) and the other in parietal white matter (PWM)." (NCT00472732)
Timeframe: one time measurement at study baseline
| Intervention | mM (Mean) | |||
|---|---|---|---|---|
| Glutamine in PCGM | Myoinositol in PCGM | Glutamine in PWM | Myoinositol in PWM | |
| Healthy Controls | 3.66 | 4.50 | 1.09 | 2.86 |
| OTCD Patients | 4.97 | 3.78 | 2.13 | 2.27 |
"Measure of blood oxygen level dependent (BOLD) signal of OTCD patients and healthy controls during an N-Back task comparing 2-back and 1-back conditions. This contrast was created for each participant using SPM and then entered into a group analysis in which we compare percent signal change between groups. Therefore, we never see BOLD signal change at the individual level, which is why we never see scores or numbers at the individual level and we cannot calculate a measure of dispersion for this data." (NCT00472732)
Timeframe: one time measurement at study baseline
| Intervention | percent signal change (Number) | ||
|---|---|---|---|
| Dorsolateral prefrontal cortex (BA 10) | Dorsolateral prefrontal cortex (BA 46) | Anterior cingulate cortex (BA 32) | |
| Healthy Controls | 0.04 | 0.15 | 0.28 |
| OTCD Patients | 0.21 | 0.22 | 0.515 |
(NCT00551200)
Timeframe: during the period on 100% Buphenyl (up to 4 weeks) or HPN-100 (up to 10 weeks)
| Intervention | participants (Number) |
|---|---|
| Buphenyl | 7 |
| HPN-100 | 5 |
(NCT00551200)
Timeframe: during the period subjects on 100% Buphenyl (up to 4 weeks) or HPN-100 (up to 10 weeks)
| Intervention | participants (Number) |
|---|---|
| Buphenyl | 1 |
| HPN-100 | 0 |
(NCT00551200)
Timeframe: End of Study
| Intervention | participants (Number) | |
|---|---|---|
| prefer Buphenyl | prefer HPN-100 | |
| Buphenyl to HPN-100 | 1 | 9 |
measured AUC0-24 (Area under the curve from time 0 (pre-dose) to 24 hours) for each metabolite in plasma. Data were collected at 30 minutes and 1, 2, 4, 5, 6, 8, 10, 12, and 24 hours post-first dose. (NCT00551200)
Timeframe: At steady state (1 week) on each medication (Buphenyl® alone, HPN-100 alone)
| Intervention | μg*h/mL (Mean) | ||
|---|---|---|---|
| AUC0-24 PBA (phenylbutyrate) in plasma | AUC0-24 PAA (phenylacetate) in plasma | AUC0-24 PAGN (phenylacetylglutamine) in plasma | |
| HPN-100 Steady State | 540 | 575 | 1098 |
| NaPBA Steady State | 740 | 596 | 1133 |
Data were collected at pre-first dose and at 30 minutes and 1, 2, 4, 5, 6, 8, 10, 12, and 24 hours post first dose. (NCT00551200)
Timeframe: At steady state (1 week) on each medication (Buphenyl® alone, HPN-100 alone), and at steady state (1 week) after each dose escalation
| Intervention | μmol/L (Mean) | |
|---|---|---|
| in peak | in TNAUC (time-normalized area under the curve) | |
| HPN-100 Steady State | 56.3 | 26.5 |
| NaPBA Steady State | 79.1 | 38.4 |
(NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | micromoles/L (Median) |
|---|---|
| High-dose Arginine Alone | 129 |
| Low-dose Arginine Plus Buphenyl | 53 |
(NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | micromole/l (Median) |
|---|---|
| High-dose Arginine Alone | 69 |
| Low-dose Arginine Plus Buphenyl | 53 |
The result (in seconds) for a prothrombin time performed on a normal individual will vary according to the type of analytical system employed. This is due to the variations between different batches of manufacturer's tissue factor used in the reagent to perform the test. The INR was devised to standardize the results. Each manufacturer assigns an ISI value (International Sensitivity Index) for any tissue factor they manufacture. The ISI value indicates how a particular batch of tissue factor compares to an international reference tissue factor. The ISI is usually between 1.0 and 2.0. The INR is the ratio of a patient's prothrombin time to a normal (control) sample, raised to the power of the ISI value for the analytical system being used. (NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | seconds (Mean) |
|---|---|
| Low-dose Arginine Plus Buphenyl | 14.2 |
| High Dose Arginine Alone | 13.8 |
(NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | micromoles/kg/hr (Mean) |
|---|---|
| High-dose Arginine Alone | 215 |
| Low-dose Arginine Plus Buphenyl | 97 |
Plasma aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels were measured. (NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | IU/L (Mean) | |
|---|---|---|
| Plasma AST | ALT | |
| High Dose Arginine Alone | 52 | 57.86 |
| Low-dose Arginine Plus Buphenyl | 36.2 | 31.7 |
Plasma levels of coagulation factors I and IX were used as measures of hepatic synthetic function since the treatment duration was short. (NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | mg/dL (Mean) | |
|---|---|---|
| I | IX | |
| High Dose Arginine Alone | 229.77 | 98.36 |
| Low-dose Arginine Plus Buphenyl | 222.22 | 105.33 |
Prothrombin time (PT) and partial thromboplastin time (PTT) were measured PT measures factors I (fibrinogen), II (prothrombin), V, VII, and X, while PTT is a performance indicator of the efficacy of the common coagulation pathways. (NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | seconds (Mean) | |
|---|---|---|
| PT | PTT | |
| High Dose Arginine Alone | 13.8 | 30.98 |
| Low-dose Arginine Plus Buphenyl | 14.25 | 30.91 |
45 reviews available for urea and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Amino acid metabolism in patients with propionic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Citric Acid Cycle; Diet; | 2012 |
Metabolic disorders causing childhood ataxia.
Topics: Acidosis, Lactic; Amino Acid Metabolism, Inborn Errors; Glycosylation; Humans; Lysosomal Storage Dis | 2003 |
Considerations in the difficult-to-manage urea cycle disorder patient.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficie | 2005 |
Nutritional management of urea cycle disorders.
Topics: Acute Disease; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chr | 2005 |
Genetic counseling issues in urea cycle disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carbamoyl-Phosphate Synthase I Deficiency Disease; Chro | 2005 |
Urea cycle disorders: clinical presentation outside the newborn period.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Child, Preschool; Fem | 2005 |
[Hyperammonemia type II as an example of urea cycle disorder].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Coma; Female; Humans; Hyperammonemi | 2006 |
Hepatic Disorders.
Topics: Adolescent; Adult; alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Ammonia; Ch | 1982 |
Metabolic acidosis in the newborn period.
Topics: Acidosis; Acute Kidney Injury; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn | 1983 |
An update of concepts of essential amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Animals; Arginine; Atrophy; C | 1984 |
Urea cycle enzymopathies.
Topics: Acetyltransferases; Adult; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Arg | 1982 |
A survey of inborn errors of amino acid metabolism and transport in man.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport | 1981 |
Some regulatory aspects of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phosphate; Citric Acid Cycle; Dieta | 1981 |
N-acetylglutamate synthetase (NAGS) deficiency.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; A | 1994 |
Inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Diagnosis, Di | 1994 |
Diseases of metabolism (disorders of amino acid metabolism).
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Urea | 1993 |
[Urea cycle disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamo | 1995 |
Urea cycle disorders: diagnosis, pathophysiology, and therapy.
Topics: Adolescent; Algorithms; Alkalosis, Respiratory; Amino Acid Metabolism, Inborn Errors; Ammonia; Child | 1996 |
Alternative pathway therapy for urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Benzoates; Benzoic Acid; Child; Citrulline; | 1998 |
The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Follow-Up Studies; Humans; Infant; Infant, | 1998 |
[Inherited hyperammonemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Consciousness Disorders; Diagnosis, Differential; Hum | 1998 |
Treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Antimetabolites; Child, Preschool; Drug Combinations; | 1999 |
[Disorders of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Citrullinemia; Human | 2000 |
Intragenic complementation and the structure and function of argininosuccinate lyase.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Argininosuccinate Lyase; Arginin | 2000 |
Consensus statement from a conference for the management of patients with urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Dietary Proteins; Humans; Hyperammonemia; Urea | 2001 |
Proceedings of a consensus conference for the management of patients with urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Hyperammonemia; Infant, Newbo | 2001 |
Laboratory evaluation of urea cycle disorders.
Topics: Algorithms; Amino Acid Metabolism, Inborn Errors; Citrulline; DNA Mutational Analysis; Humans; Hyper | 2001 |
Alternative pathway therapy for urea cycle disorders: twenty years later.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Humans; Hyperammonemia; Phenylacetates; Phe | 2001 |
Long-term correction of urea cycle disorders.
Topics: Adenoviridae; Amino Acid Metabolism, Inborn Errors; Animals; Child; Contraindications; Genetic Vecto | 2001 |
Urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Genetic Therapy; Humans; Hyperammonemia; Infant; Infant, Newbo | 2000 |
The adolescent with an inborn error of metabolism: medical issues and transition to adulthood.
Topics: Adolescent; Adolescent Medicine; Adult; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolis | 2002 |
Organic acidemias.
Topics: Acidosis, Renal Tubular; Acids; Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammoni | 1976 |
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
[Metabolism of amino acids and urea cycle: animal models of enzymopathies].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Enzymes; Metabolic Diseases; | 1992 |
[Adverse effects of branched chain amino acid transfusion on type-II citrullinemia--report of an adult case].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Argininosuccinate | 1991 |
Cognitive development in children with inborn errors of urea synthesis.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cognition Disorder | 1988 |
Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synth | 1987 |
Inborn errors of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Female; Humans; Infant; Infant, Newborn; Pregn | 1987 |
Metabolic syndromes with dermatologic manifestations.
Topics: Albinism; Alkaptonuria; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biotinid | 1986 |
Mammalian urea cycle enzymes.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginase; Argininosuccinate Lyase; Argin | 1986 |
Enzymes of arginine and urea synthesis.
Topics: Aging; Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Binding Sites; Carbamates; | 1973 |
Aminoacidurias due to inherited disorders of metabolism. 2.
Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline; | 1973 |
[Diseases of newborn infants based on inborn anomalies of metabolism. 1. Theoretical principles].
Topics: Adrenal Hyperplasia, Congenital; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Met | 1970 |
Hereditary metabolic disorders of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Aspartic Acid; Carbamates; Citrul | 1971 |
Congenital disorders of the urea cycle and ammonia detoxication.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Brain; Chromosome Aberrations; Fetus; Humans | 1971 |
3 trials available for urea and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Cell Differe | 2020 |
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
Topics: Adolescent; Adult; Age Factors; Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamo | 2007 |
Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Carnitine | 1996 |
161 other studies available for urea and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Glutamine; Humans; Hyperammonem | 2022 |
Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Neutral; Ammonia; Animals; Disea | 2023 |
Urease-immobilized magnetic microparticles in urine sample preparation for metabolomic analysis by gas chromatography-mass spectrometry.
Topics: Amino Acid Metabolism, Inborn Errors; Analytic Sample Preparation Methods; Brain Diseases, Metabolic | 2019 |
Computational modeling to predict nitrogen balance during acute metabolic decompensation in patients with urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Diet; Dietary Proteins; Glucose; Human | 2016 |
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonium Compounds; Argininosuccinate Synthase; Ch | 2016 |
Chronic administration of methionine and/or methionine sulfoxide alters oxidative stress parameters and ALA-D activity in liver and kidney of young rats.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Catalase; Cholesterol; Enzyme Activation; Female; Glu | 2017 |
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child | 2008 |
Hereditary urea cycle diseases in Finland.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Carbamoyl-Phosph | 2008 |
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.
Topics: Acute Disease; Adolescent; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschoo | 2008 |
A mouse model of argininosuccinic aciduria: biochemical characterization.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Argininosuccinate Lyase; Arginino | 2003 |
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance.
Topics: Absorption; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Female; Huma | 2003 |
EXCRETION OF AMINO ACIDS IN CHILDHOOD. A RELIABLE METHOD FOR THE DETERMINATION OF AMINO ACID NITROGEN IN URINE.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Body Fluids; Child; Collagen | 1964 |
CITRULLINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Citrulline; Citrullinemia; Clinical Enzyme Tests; Humans; Infa | 1964 |
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Argininosuccinic Acid; Child; Citrullin | 2003 |
Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency.
Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Biomarkers; Cognition; Female; Heterozygo | 2004 |
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Citrullinemia; | 2004 |
Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Gas Chromatogr | 2004 |
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+; Amino Acid Transport System y+ | 2007 |
A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset.
Topics: Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; Diagnosis, Differenti | 2007 |
Alternative-pathway therapy for hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hyperammonemia; Phenylacetates; Sodium Benzoate; Urea | 2007 |
Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Chemistry; Cell Compartmentation; Fo | 2008 |
Treatment of hyperammonemia.
Topics: Acetates; Amino Acid Metabolism, Inborn Errors; Ammonia; Aspartic Acid; Blood Transfusion; Child; Ch | 1967 |
Studies on amino acid metabolism in citrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Blood Chemical Analysis; Caseins; Child; | 1967 |
Arginosuccine aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Citrates; Diet Therapy; Glutamates; | 1967 |
Citrullinemia. A preliminary case report.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Blood Chemical Analysis; Citrulline; Diet Therapy; Fe | 1967 |
Citrullinemia with defective urea production.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Diet Therapy; Female; Humans; Infant; In | 1967 |
Inborn metabolic errors of urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography; Humans; Intellectual Disability; Ure | 1967 |
Familial protein intolerance with deficient transport of basic amino acids. An analysis of 10 patients.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Blood Proteins; Ch | 1967 |
Enzymes of urea synthesis in familial protein intolerance with deficient transport of basic amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Child; Dietary Proteins; Humans; Ligases; | 1967 |
Oral administration of urea cycle intermediates in lysinuric protein intolerance: effect on plasma and urinary arginine and ornithine.
Topics: Administration, Oral; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Citr | 1983 |
Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Benzoates; Benz | 1984 |
Treatment of congenital hyperammonemias.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Humans; Metabolism, Inborn Erro | 1984 |
Hyperammonemia.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; A | 1984 |
Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccini | 1984 |
A defect of the urea cycle--a case report.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Infant, Newborn; Male; Ornithine Carbamoyltra | 1984 |
[Neonatal hyperammonemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Carbamoyl-Phosphate Syntha | 1983 |
[Pulmonary hemorrhages in newborn infants with inborn errors of the 1st 2 phases of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Hemorrhage; H | 1983 |
Potentiation by piridoxilate of the synthesis of hippurate from benzoate in isolated rat hepatocytes. An approach to the determination of new pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Benzoates; Cells, Cultured; Dose-Response Re | 1984 |
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1984 |
Detection of urea cycle enzymopathies in childhood.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child, Presch | 1984 |
Newborn screening for urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Bacillus subtilis; Biological Assay | 1982 |
Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic A | 1983 |
The sparse fur mouse: an animal model for a human inborn error of metabolism of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phosphate; Disease Models, Animal; | 1983 |
Neonatal isovaleric acidemia associated with hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Hemiterpenes; Humans; Infant, Newborn; Isoval | 1982 |
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinate S | 1982 |
[Neonatal hyperammonemia due to ornithine transcarbamylase deficiency (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Humans; Infant; Liver; Male; Ornithine Carba | 1982 |
Hollow-fiber reactors containing mammalian arginase: an approach to enzyme replacement therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Drug Stability; Enzymes, Immobilized; Hydro | 1982 |
Treatment of inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Humans; Urea | 1982 |
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Blood Specimen Collection | 1982 |
Urea cycle diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Humans; Urea | 1982 |
Clinical and biochemical findings in argininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child, Preschool; Consanguinity; Dietar | 1982 |
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Female; Humans; Hyperargi | 1982 |
Hyperammonemia in the neonate with hypoxia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Asphyxia Neonatorum; Blood Gas Analysis; Diagnosis, D | 1982 |
Hyperammonemia secondary to hereditary organic acidurias: a study of 29 cases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Hemiterpenes; Humans; Infant, Newborn; Methylmalonic | 1982 |
A new method for screening of hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Infant, Newborn; Intellectual Disability; Mas | 1982 |
Comparison between amino acids and orotic acid analysis in the detection of urea cycle disorders in the Quebec Urinary Screening Program.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Thin Layer; Humans; Infant, Newbo | 1982 |
Transient hyperammonemias in infants with and without organic acidemia.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; A | 1982 |
N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; B | 1982 |
Enzymatic analysis of citrullinemia (12 cases) in Japan.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginase; Argininosuccinate Lyase; Arginino | 1982 |
Qualitative abnormality of liver argininosuccinate synthetase in a patient with citrullinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginase; Argininosuccinate Lyase; Argininosuccina | 1982 |
[Hyperammonemia due to ornithine transcarbamylase deficiency--a cause of lethal metabolic crisis during the newborn period and infancy (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Autopsy; Cerebral Cortex; Humans; Infant; Infant, New | 1980 |
Ammonia metabolism in a family affected by hyperargininemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginase; Arginine; Blood Ur | 1981 |
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phospha | 1981 |
Introduction to urea cycle symposium.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Infant, Newborn; Urea | 1981 |
Biochemical aspects of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Infant, Newborn; Liver; Mitochondria, Liver; | 1981 |
Clinical aspects of disorders of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Female; Humans; Infant; Infa | 1981 |
New approaches to the diagnosis and treatment of inborn errors or urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Acid; Citrulline; Glutamine; Hippura | 1981 |
Antenatal diagnosis of defects of ureagenesis.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Fetal Diseases; Humans; Pregnancy; Prenatal Diagnosis; | 1981 |
Carrier detection of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Female; Genet | 1981 |
Newborn screening of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Citric Acid Cycle; Humans; Infant, Newborn; Mass Screening; Ur | 1981 |
Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.
Topics: Amino Acid Metabolism, Inborn Errors; Biopsy; Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing); | 1980 |
Treatment of hyperammonemic coma caused by inborn errors of urea synthesis.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Benzoates; Child; Child, | 1980 |
Role of argininosuccinate synthetase in the regulation of urea synthesis in the rat and argininosuccinate synthetase-associated metabolic disorder in man.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Animals; Argininosuccinate Synthase; | 1980 |
Liver transplantation in children with inherited metabolic disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Child; Child, Preschool; Follow-U | 1995 |
Effect of L-carnitine on cerebral and hepatic energy metabolites in congenitally hyperammonemic sparse-fur mice and its role during benzoate therapy.
Topics: Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Benzoates; Benzoic A | 1993 |
Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Child; Citrulline; Humans | 1994 |
Effects of glucagon on urinary excretion of urea and on plasma ammonia level in argininosuccinate synthetase deficiency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Female | 1994 |
Hyperammonemia: the silent killer.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Carboxy-Lyase | 1993 |
Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Cells, Cultured; Cilia; Citrulline; Endoplas | 1995 |
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Child; Female; Glutamine | 1996 |
Proceedings of a satellite meeting on advances in inherited urea cycle disorders. Vienna, 20-21 May 1997.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Cit | 1998 |
Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Genetic Linka | 1998 |
In vivo measurement of ureagenesis with stable isotopes.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Breath Tests; Carbon Dioxide; Carbon | 1998 |
Liver transplantation for the treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Canada; Carbamoyl-Phosphate Synthase (Ammonia); Child | 1998 |
Evaluation of gene therapy for citrullinaemia using murine and bovine models.
Topics: Adenoviruses, Human; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Argininosucci | 1998 |
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Humans; Hyperargininemia; Infan | 1998 |
Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis.
Topics: Age Distribution; Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Child Development; Co | 1999 |
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Argininosuc | 1999 |
Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Ammonium Chloride; Animals; Arginine; Citrulline; Enz | 1999 |
Liver transplantation in urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child; Chil | 1999 |
Effect of lysine infusion on urea cycle in lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Amino Acids; Ammon | 2000 |
Current strategies for the management of neonatal urea cycle disorders.
Topics: Algorithms; Amino Acid Metabolism, Inborn Errors; Antimetabolites, Antineoplastic; Arginine; Dialysi | 2001 |
The nutritional management of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet, Protein-Restricted; Dietary Pro | 2001 |
Long-term management of patients with urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; | 2001 |
Psychosocial issues and coping strategies in families affected by urea cycle disorders.
Topics: Adaptation, Psychological; Adult; Amino Acid Metabolism, Inborn Errors; Child; Family Health; Female | 2001 |
Quantification of benzoic, phenylacetic, and phenylbutyric acids from filter-paper blood spots by gas chromatography--mass spectrometry with stable isotope dilution.
Topics: Amino Acid Metabolism, Inborn Errors; Benzoic Acid; Blood Specimen Collection; Deuterium; Gas Chroma | 2001 |
Localized proton MR spectroscopy in infants with urea cycle defect.
Topics: Amino Acid Metabolism, Inborn Errors; Citrullinemia; Female; Humans; Infant; Infant, Newborn; Magnet | 2001 |
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Creatine; Dietary Supplemen | 2001 |
[Visual field defect in a patient given sodium valporate then carbamazepine: possible effect of aminotransferase inhibition].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Anticonvulsants; Carbamazepine; Drug Therapy, Combinati | 2002 |
Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: activity of urea cycle enzymes.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Fibroblasts; Humans; Infant, Newborn; Infant, | 1978 |
Management of heritable disorders of the urea cycle and of Refsum's and Fabry's diseases.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Benzoates; Carbamoyl-Phosphate Synthase (Ammo | 1979 |
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinate | 1976 |
Use of keto acids in inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzi | 1979 |
Protein load in argininosuccinic aciduria: thoughts on its biochemical implications.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Argininosuccinic Acid; | 1978 |
Glutamic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Calcium; Female; Follow-Up Studies; Glutamates; Humans; Infant | 1978 |
Studies on liver argininosuccinate synthetase in a patient with citrullinemia and in normal subjects.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Argininosuccinate Synthase; Citrulline; Cy | 1979 |
Nitrogen metabolism in neonatal citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Infant, Newborn; Infant, Newborn | 1977 |
The simulation of the urea cycle: correlation of effects due to inborn errors in the catalytic properties of the enzymes with clinical-biochemical observations.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; | 1977 |
Effect of dietary protein and physical exercise on patients with arginino-succinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Child; Dietary Prote | 1977 |
Cerebrospinal fluid and plasma glutamine elevation by anticonvulsant drugs: a potential diagnostic and therapeutic trap.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulli | 1976 |
Congenital hyperammonemic syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1976 |
Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Argininosuccinic Aciduria; Diseases in T | 1976 |
Plasma carnosinase deficiency in patients with urea cycle defects.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carbamyl Phosphate; Carnosine; Child; Child, Preschool; | 1975 |
Lysinuric protein intolerance.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Bi | 1975 |
Citrulline metabolism in normal and citrullinemic human lymphocyte lines.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; C | 1975 |
Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Erythrocytes; Homozygote; Humans; Hyperarg | 1976 |
Plasma glutamine concentration: a guide in the management of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Glutamine; Humans; Infant, Newborn; Male; Ornithine C | 1992 |
Prospective treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Anthropometry; Argininosuccinate Synthase; Argininosu | 1991 |
Urea cycle defect: a case with MR and CT findings resembling infarct.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cerebral Infarction; Child, Preschool; Female; Humans | 1991 |
Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Biomarkers; Carbamoyl-Phosphate Synthase (Ammonia); C | 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 |
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset].
Topics: Acute Disease; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Coma; Diagnosis, Differenti | 1989 |
[Cerebral edema with hyperammonemia in valpromide poisoning. Manifestation in an adult, of a partial deficit in type I carbamylphosphate synthetase].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Anticonvulsants; Brain Edema; Carbamoyl-Phosph | 1988 |
Waste nitrogen excretion via amino acid acylation: benzoate and phenylacetate in lysinuric protein intolerance.
Topics: Acylation; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Benzoates; Benzoic A | 1986 |
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Citrulline; Cloning, Molecula | 1987 |
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Br | 1986 |
Disorders of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Acid; Ca | 1985 |
[Inborn metabolic errors due to disorders in the urea synthesis cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Female; Humans; Male; Urea | 1986 |
Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Apgar Score; Argininosuccinate Synthase; Argininosucc | 1985 |
[Enzymatic disturbances in the urea cycle].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child; Child, Preschool; Cit | 1969 |
Letter: On a late developing urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Ligases; Lysine; Ornithine Carba | 1974 |
Neuropathological study of aminoacidurias.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System; Cystathionine; Female; Gl | 1972 |
Pediatric clinical aspects of aminoacidopathies.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Female; Homocy | 1972 |
Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.
Topics: Alkalosis, Respiratory; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Blood Urea Nitro | 1973 |
Argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Chromatography, Thin Layer; Citric Acid | 1973 |
Thin-layer chromatography in the examination of amino acid metabolism and renal function.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Aspergillus; Chromatography, Thin Layer; Culture | 1973 |
Citrullinemia and an alternative urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Infant; Lysine; Urea | 1973 |
Variants of citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Brain; Chromatography; Citrulline; Dyspn | 1973 |
Citrullinemia: investigation and treatment over a four-year period.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Child, Preschool; Citrulline; | 1974 |
Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Cystine; | 1974 |
Severe neonatal citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Citrulline; Dietary Carbohydra | 1974 |
The relationship between the formation of urea and argininosuccinate in a patient with argininosuccinic aciduria studied with labelled precursors.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Carbamates; Carbon Radioisotopes; Citrulline; | 1974 |
Central nervous system lesions in disorders of amino-acid metabolism. A neuropathological study.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Central Nervous System; Chi | 1972 |
Separation of neutral amino acids, dipeptides and oligopeptides into classes. Application to urine.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acids; Child; Chromatography, Ion E | 1972 |
Hyperlysinuria with hyperammonemia. A new metabolic disorder.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Diet Therapy; Growth Disorders; | 1972 |
Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Central Nervous System Diseases; Child; Child | 1972 |
Pyroglutamic aciduria: studies on the enzymic block and on the metabolic origin of pyroglutamic acid.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Bicarbonates; Biodegradation, Environmenta | 1972 |
The congenital hyperammonemic syndrome.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Diet Therapy; Dietary Proteins | 1971 |
Disorders of amino acid metabolism--1971.
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; | 1971 |
An improved technique for the analysis of amino acids and related compounds on thin layers of cellulose. V. The quantitative determination of urea in urine.
Topics: Amino Acid Metabolism, Inborn Errors; Cellulose; Chromatography, Thin Layer; Densitometry; Humans; I | 1971 |
Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Height; Consanguinity; Female; Finland; Gene | 1971 |
[Hyperargininemia wityh arginase deficiency. A new familial metabolic disease. I. Clinical studies].
Topics: Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Diagnosis, | 1970 |
[Familial protein intolerance with hyperammonemia].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Intellectual Disability; Nitrogen; Urea | 1970 |
An improved technique for the analysis of amino acids and related compounds on thin layers of cellulose. IV. The quantitative determination of amino acids in urine.
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Cellulose; Child; Chromatography, Ion Exchange; | 1971 |
Familial protein intolerance. Possible nature of enzyme defect.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Tran | 1971 |
[Citrullinemia].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Ammonia; Autopsy; Chromatography; Citrulline; Humans; | 1971 |
[Generalized hyperaminoaciduria with hereditary rickets in pigs].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Hypophosphatemia, Familial; Nitrogen; Or | 1967 |
Hereditary metabolic disorders involving the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Infant; Infant, Newborn; Lyases; Male; Ornith | 1968 |
Guanidinosuccinic acid in renal failure, experimental azotemia and inborn errors of the urea cycle.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Child; Child, Preschool; | 1969 |
Urea production from labelled ammonia in argininosuccinic aciduria.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Blood Urea Nitrogen; Humans; Lactates; Male | 1969 |
[Congenital metabolic disorders of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Female; Humans; Infant; Infant, Newborn; | 1969 |