ammonium hydroxide has been researched along with Inborn Errors of Metabolism in 161 studies
azane : Saturated acyclic nitrogen hydrides having the general formula NnHn+2.
| Excerpt | Relevance | Reference |
|---|---|---|
| "A female patient with isovaleric acidaemia had a successful outcome from pregnancy." | 7.71 | Second case of a successful pregnancy in maternal isovaleric acidaemia. ( Lealman, GT; Rogozinski, H; Spinty, S; Wraith, JE, 2002) |
| " They were recently diagnosed with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome." | 7.68 | Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( Knopman, DS; Shih, VE; Tuchman, M, 1990) |
| "3-methylglutaconic aciduria includes a heterogeneous group of inborn errors of metabolism." | 5.05 | Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review. ( Pyrkosz, A; Sykut-Cegielska, J; Zapolnik, P, 2020) |
| "Inborn errors of metabolism (IEM), including organic acidemias and urea cycle defects, are characterized by systemic accumulation of toxic metabolites with deleterious effect on the developing brain." | 4.12 | Acute hemodialysis therapy in neonates with inborn errors of metabolism. ( Attias, O; Bar-Joseph, G; Ben-Ari, J; Eisenstein, I; Eytan, D; Hadash, A; Halberthal, M; Magen, D; Mandel, H; Pollack, S; Tal, G; Zelikovic, I, 2022) |
| "A female patient with isovaleric acidaemia had a successful outcome from pregnancy." | 3.71 | Second case of a successful pregnancy in maternal isovaleric acidaemia. ( Lealman, GT; Rogozinski, H; Spinty, S; Wraith, JE, 2002) |
| "Mitochondrial ornithine transporter deficiency, or HHH syndrome, is a metabolic disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia." | 3.71 | A novel mutation, P126R, in a Japanese patient with HHH syndrome. ( Hayakawa, C; Kanazawa, N; Miyamoto, T; Tsujino, S, 2002) |
| " We hypothesized that this syndrome of hyperinsulinism and hyperammonemia was caused by excessive activity of glutamate dehydrogenase, which oxidizes glutamate to alpha-ketoglutarate and which is a potential regulator of insulin secretion in pancreatic beta cells and of ureagenesis in the liver." | 3.70 | Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. ( Burlina, AB; Greenberg, CR; Hopwood, NJ; Hsu, BY; Lieu, YK; Perlman, K; Poncz, M; Rich, BH; Stanley, CA; Zammarchi, E, 1998) |
| " They were recently diagnosed with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome." | 3.68 | Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( Knopman, DS; Shih, VE; Tuchman, M, 1990) |
| "To determine the influence on postoperative hepatic mass, body weight, ammonia clearance, hepatic urea cycle enzyme activity, and hepatic protein metabolism, 59 dogs were divided into six experimental groups: sham operation end-to-side portacaval shunt, mesocaval shunt with subsequent end-to-side portacaval shunt, distal splenorenal shunt, caval left portal shunt, and portal venous seqregation with juglar vein interposition." | 3.65 | The mechanism of postshunt liver failure. ( Chang, KH; Rao, NS; Reichle, FA; Reichle, RM, 1977) |
| " Crystalluria in a three-month-old male infant with a history of intermittent vomiting since birth and incipient coma led to the discovery of orotic aciduria." | 3.65 | Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant. ( Mackenzie, S; MacLeod, P; Scriver, CR, 1972) |
| "Nine patients with McArdle disease, one with the partial glycolytic defect phosphoglycerate mutase deficiency, and nine matched, healthy subjects performed the classic ischemic forearm protocol and an identical protocol without ischemia." | 2.70 | A nonischemic forearm exercise test for McArdle disease. ( Haller, RG; Jensen, TD; Kazemi-Esfarjani, P; Skomorowska, E; Vissing, J, 2002) |
| "When hyperammonemia is not thought to be the result of liver failure, treatment for an occult disorder of metabolism must begin prior to the confirmation of an etiology." | 2.44 | Hyperammonemia in the ICU. ( Clay, AS; Hainline, BE, 2007) |
| " Drug treatment using chronic administration of sodium benzoate has been abandoned by some centers, but the acceptability of phenylbutyrate is an issue for many patients." | 2.42 | Problems in the management of urea cycle disorders. ( Wilcken, B, 2004) |
| "Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy." | 2.40 | Inborn errors of metabolism in infancy: a guide to diagnosis. ( Burton, BK, 1998) |
| "Inborn errors of metabolism are an individually rare but collectively significant cause of mortality and morbidity in the neonatal period." | 1.72 | Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre. ( Boyle, MA; Brady, JJ; Dunne, E; Howard, C; Kelleher, G; Khuffash, AE; Knerr, I; Murphy, CA; O'Reilly, D; Suttie, T, 2022) |
| "To characterize seizures and evaluate the utility of continuous EEG recording during hyperammonemia due to inborn errors of metabolism." | 1.48 | The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. ( Gaillard, WD; Gropman, AL; Massaro, A; Prust, M; Tsuchida, TN; Vezina, G; Wiwattanadittakul, N, 2018) |
| "Newborns with inborn errors of metabolism often present with hyperammonaemic coma, requiring prompt diagnosis and specific medical therapy, nutritional support and efficient toxin removal." | 1.36 | Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism. ( Arbeiter, AK; Bonzel, KE; Büscher, R; Dohna-Schwake, C; Hanssler, L; Hoyer, PF; Kranz, B; Neudorf, U; Wingen, AM, 2010) |
| "Hyperammonemia is encountered frequently in acutely ill children presenting for emergency care with altered levels of consciousness (ALOC)." | 1.36 | Hyperammonemia in the pediatric emergency care setting. ( Dabnon, M; Fouad, HM; Galal, NM; Saied, A, 2010) |
| "In adult heterozygous patients, partial OTC deficiency can be responsible for life-threatening hyperammonemic coma, with a frequency of 15 %." | 1.30 | Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient. ( Böker, K; Heringlake, S; Manns, M, 1997) |
| "We describe here two patients with OTC deficiency, one a late on-set female patient (case 1) and the other a neonatal-onset male patient (case 2), who were successfully treated with orthotopic liver transplantation (OLTx)." | 1.29 | Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. ( Finegold, DN; Hasegawa, T; Nour, B; Reyes, J; Starzl, TE; Todo, S; Tzakis, AG, 1995) |
| "Hyperlysinemia was observed with neonatal propionic and methylmalonic acidurias." | 1.28 | [Hyperlysinemia and hyperammonemia]. ( Bardet, J; Kamoun, P; Parvy, P; Rabier, D, 1991) |
| "Today we know a great number of inborn errors of metabolism which can be treated by a special diet." | 1.27 | [Nutrition in congenital metabolic diseases]. ( Plöchl, E, 1984) |
| "The infant developed severe mental retardation, athetosis, and spasticity." | 1.25 | Familial hyperargininaemia. ( Colombo, JP; Lavinha, F; Lowenthal, A; Terheggen, HG, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 94 (58.39) | 18.7374 |
| 1990's | 38 (23.60) | 18.2507 |
| 2000's | 11 (6.83) | 29.6817 |
| 2010's | 12 (7.45) | 24.3611 |
| 2020's | 6 (3.73) | 2.80 |
| Authors | Studies |
|---|---|
| Eminoğlu, FT | 1 |
| Öncül, Ü | 1 |
| Kahveci, F | 1 |
| Okulu, E | 1 |
| Kraja, E | 1 |
| Köse, E | 1 |
| Kendirli, T | 1 |
| Eisenstein, I | 1 |
| Pollack, S | 1 |
| Hadash, A | 1 |
| Eytan, D | 1 |
| Attias, O | 1 |
| Halberthal, M | 1 |
| Ben-Ari, J | 1 |
| Bar-Joseph, G | 1 |
| Zelikovic, I | 1 |
| Mandel, H | 1 |
| Tal, G | 1 |
| Magen, D | 1 |
| Ames, EG | 1 |
| Powell, C | 1 |
| Engen, RM | 1 |
| Weaver, DJ | 1 |
| Mansuri, A | 1 |
| Rheault, MN | 1 |
| Sanderson, K | 1 |
| Lichter-Konecki, U | 1 |
| Daga, A | 1 |
| Burrage, LC | 1 |
| Ahmad, A | 1 |
| Wenderfer, SE | 1 |
| Luckritz, KE | 1 |
| Dunne, E | 1 |
| O'Reilly, D | 1 |
| Murphy, CA | 1 |
| Howard, C | 1 |
| Kelleher, G | 1 |
| Suttie, T | 1 |
| Boyle, MA | 1 |
| Brady, JJ | 1 |
| Knerr, I | 1 |
| Khuffash, AE | 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 |
| Zapolnik, P | 1 |
| Sykut-Cegielska, J | 1 |
| Pyrkosz, A | 1 |
| Ayyub, OB | 1 |
| Hofherr, S | 1 |
| Cusmano-Ozog, K | 1 |
| Ah Mew, N | 1 |
| Zhang, Q | 1 |
| Yu, Z | 1 |
| Wang, X | 1 |
| Tian, J | 1 |
| Gökceoğlu, AU | 1 |
| Taşar, MA | 1 |
| Yalaki, Z | 1 |
| Güneş, A | 1 |
| Bakır, A | 1 |
| Wiwattanadittakul, N | 1 |
| Prust, M | 1 |
| Gaillard, WD | 1 |
| Massaro, A | 1 |
| Vezina, G | 1 |
| Tsuchida, TN | 1 |
| Gropman, AL | 2 |
| Chien, MM | 1 |
| Chang, MH | 1 |
| Chang, KC | 1 |
| Lu, FT | 1 |
| Chiu, YC | 1 |
| Chen, HL | 1 |
| Ni, YH | 1 |
| Hsu, HY | 1 |
| Wu, JF | 1 |
| Bennett, EE | 1 |
| Hummel, K | 1 |
| Smith, AG | 1 |
| Longo, N | 1 |
| Celik, M | 1 |
| Akdeniz, O | 1 |
| Ozgun, N | 1 |
| Ipek, MS | 1 |
| Ozbek, MN | 1 |
| Kiykim, E | 1 |
| Zeybek, CA | 1 |
| Zubarioglu, T | 1 |
| Cansever, S | 1 |
| Yalcinkaya, C | 1 |
| Soyucen, E | 1 |
| Aydin, A | 1 |
| Arbeiter, AK | 1 |
| Kranz, B | 1 |
| Wingen, AM | 1 |
| Bonzel, KE | 1 |
| Dohna-Schwake, C | 1 |
| Hanssler, L | 1 |
| Neudorf, U | 1 |
| Hoyer, PF | 1 |
| Büscher, R | 1 |
| Westrope, C | 1 |
| Morris, K | 1 |
| Burford, D | 1 |
| Morrison, G | 1 |
| LaBuzetta, JN | 1 |
| Yao, JZ | 1 |
| Bourque, DL | 1 |
| Zivin, J | 1 |
| Galal, NM | 1 |
| Fouad, HM | 1 |
| Saied, A | 1 |
| Dabnon, M | 1 |
| Kazemi-Esfarjani, P | 1 |
| Skomorowska, E | 1 |
| Jensen, TD | 1 |
| Haller, RG | 1 |
| Vissing, J | 1 |
| Spinty, S | 1 |
| Rogozinski, H | 1 |
| Lealman, GT | 1 |
| Wraith, JE | 1 |
| Wilcken, B | 2 |
| Ihara, K | 1 |
| Miyako, K | 1 |
| Ishimura, M | 1 |
| Kuromaru, R | 1 |
| Wang, HY | 1 |
| Yasuda, K | 1 |
| Hara, T | 1 |
| Stéphenne, X | 1 |
| Najimi, M | 1 |
| Sibille, C | 1 |
| Nassogne, MC | 1 |
| Smets, F | 1 |
| Sokal, EM | 1 |
| Pela, I | 1 |
| Seracini, D | 1 |
| Donati, MA | 1 |
| Lavoratti, G | 1 |
| Pasquini, E | 1 |
| Materassi, M | 1 |
| Clay, AS | 1 |
| Hainline, BE | 1 |
| Singh, RH | 1 |
| Summar, M | 2 |
| Leonard, JV | 1 |
| Lorber, J | 1 |
| Zimmermann, A | 2 |
| Bachmann, C | 5 |
| Högger, I | 1 |
| Gehler, J | 1 |
| Mielfried, A | 1 |
| Mönch, E | 1 |
| Peters, H | 1 |
| Plöchl, E | 1 |
| Jaeken, J | 1 |
| Devlieger, H | 1 |
| Evens, M | 1 |
| Casaer, P | 1 |
| Eggermont, E | 1 |
| Krieger, IE | 1 |
| Nigro, M | 1 |
| Sarnaik, A | 1 |
| Taqi, Q | 1 |
| Walser, M | 1 |
| Stewart, PM | 1 |
| Bremer, HJ | 1 |
| Dhareshwar, SS | 1 |
| Ambani, LM | 1 |
| Suchak, RH | 1 |
| Danthi, V | 1 |
| Smith, I | 1 |
| Rajantie, J | 1 |
| Colombo, JP | 6 |
| Ratnakumari, L | 1 |
| Qureshi, IA | 2 |
| Maysinger, D | 1 |
| Butterworth, RF | 2 |
| Hasegawa, T | 1 |
| Tzakis, AG | 1 |
| Todo, S | 1 |
| Reyes, J | 1 |
| Nour, B | 1 |
| Finegold, DN | 1 |
| Starzl, TE | 1 |
| Batshaw, ML | 4 |
| Robinson, MB | 3 |
| Hyland, K | 1 |
| Djali, S | 2 |
| Heyes, MP | 3 |
| Seiler, N | 1 |
| Grauffel, C | 1 |
| Daune-Anglard, G | 1 |
| Sarhan, S | 1 |
| Knödgen, B | 1 |
| Ozand, PT | 1 |
| Rashed, M | 1 |
| Gascon, GG | 1 |
| Youssef, NG | 1 |
| Harfi, H | 1 |
| Rahbeeni, Z | 1 |
| al Garawi, S | 1 |
| al Aqeel, A | 1 |
| Mufti, P | 2 |
| Ahmed, I | 2 |
| Treem, WR | 1 |
| Wilson, BE | 1 |
| Hobbs, WN | 1 |
| Newmark, JJ | 1 |
| Farrow, SJ | 1 |
| Rao, VL | 1 |
| Bueno, JD | 1 |
| Lutz, R | 1 |
| Cho, S | 1 |
| Pietsch, J | 1 |
| Deshpande, J | 1 |
| Schulman, G | 1 |
| Hopkins, K | 1 |
| McLaughlin, BA | 1 |
| Oster-Granite, ML | 1 |
| Gilbert-Dussardier, B | 1 |
| Segues, B | 1 |
| Rozet, JM | 1 |
| Rabier, D | 2 |
| Calvas, P | 1 |
| de Lumley, L | 1 |
| Bonnefond, JP | 1 |
| Munnich, A | 2 |
| Heringlake, S | 1 |
| Böker, K | 1 |
| Manns, M | 1 |
| Brusilow, SW | 2 |
| Pérez Rodríguez, MJ | 1 |
| Vázquez Martínez, JL | 1 |
| Martínez-Pardo Casanova, M | 1 |
| Martos Sánchez, I | 1 |
| Lozano Jiménez, C | 1 |
| Gallego Cobos, N | 1 |
| Stanley, CA | 1 |
| Lieu, YK | 1 |
| Hsu, BY | 1 |
| Burlina, AB | 1 |
| Greenberg, CR | 1 |
| Hopwood, NJ | 1 |
| Perlman, K | 1 |
| Rich, BH | 1 |
| Zammarchi, E | 1 |
| Poncz, M | 1 |
| Wong, KY | 1 |
| Wong, SN | 1 |
| Lam, SY | 1 |
| Tam, S | 1 |
| Tsoi, NS | 1 |
| Burton, BK | 1 |
| Plecko, B | 1 |
| Erwa, W | 1 |
| Wermuth, B | 1 |
| Tuchman, M | 2 |
| Yudkoff, M | 1 |
| Lu, FL | 1 |
| Wang, PJ | 1 |
| Hwu, WL | 1 |
| Tsou Yau, KI | 1 |
| Wang, TR | 1 |
| Yorifuji, T | 1 |
| Muroi, J | 1 |
| Uematsu, A | 1 |
| Hiramatsu, H | 1 |
| Momoi, T | 1 |
| Lee, B | 1 |
| Yu, H | 1 |
| Jahoor, F | 1 |
| O'Brien, W | 1 |
| Beaudet, AL | 1 |
| Reeds, P | 1 |
| Miyamoto, T | 1 |
| Kanazawa, N | 1 |
| Hayakawa, C | 1 |
| Tsujino, S | 1 |
| Palmer, T | 3 |
| Oberholzer, VG | 5 |
| Saudubray, JM | 2 |
| Cathelineau, L | 3 |
| Laugier, JM | 1 |
| Charpentier, C | 2 |
| Lejeune, JA | 1 |
| Mozziconacci, P | 1 |
| Gutton, P | 2 |
| Shambaugh, GE | 1 |
| Raijman, L | 1 |
| Ballard, RA | 1 |
| Vinocur, B | 1 |
| Reynolds, JW | 1 |
| Wennberg, RP | 1 |
| Merritt, A | 1 |
| Sweetman, L | 1 |
| Nyhan, WL | 3 |
| Oda, T | 1 |
| Lévy-Leblond, E | 1 |
| Brigaudiot, C | 1 |
| Martine, C | 1 |
| Tournier, M | 1 |
| Truscelli, D | 1 |
| Aicardi, J | 1 |
| Diebler, C | 1 |
| Reichle, FA | 1 |
| Rao, NS | 1 |
| Reichle, RM | 1 |
| Chang, KH | 1 |
| Terheggen, HG | 1 |
| Lowenthal, A | 1 |
| Lavinha, F | 1 |
| Bulovich, D | 1 |
| Filipovich, D | 1 |
| Khaĭdukovich, R | 1 |
| Zagorka, S | 1 |
| Anegawa, NJ | 1 |
| Gorry, E | 1 |
| Mellits, ED | 1 |
| Clancy, RR | 1 |
| Chung, HJ | 1 |
| Tokatli, A | 1 |
| Coşkun, T | 1 |
| Ozalp, I | 1 |
| Gallagher, JV | 1 |
| Rifai, N | 1 |
| Conry, J | 1 |
| Soldin, SJ | 1 |
| Parvy, P | 1 |
| Bardet, J | 1 |
| Kamoun, P | 1 |
| Goodman, SI | 1 |
| Greene, CL | 1 |
| Shapira, SK | 1 |
| Ledley, FD | 1 |
| Rosenblatt, DS | 1 |
| Levy, HL | 1 |
| Hammond, JW | 1 |
| Potter, M | 1 |
| Truscott, R | 1 |
| Knopman, DS | 1 |
| Shih, VE | 2 |
| Rao, SR | 1 |
| Bavdekar, SB | 1 |
| Joshi, SY | 1 |
| Hathi, GS | 1 |
| Rubenstein, JL | 1 |
| Johnston, K | 1 |
| Elliott, GR | 1 |
| Narcy, C | 1 |
| Lyonnet, L | 1 |
| Bonnefont, JP | 1 |
| Poll The, BT | 1 |
| Catzeflis, C | 1 |
| Hale, DE | 1 |
| Coates, PM | 1 |
| Wiesmann, U | 1 |
| Joris, F | 1 |
| Délèze, G | 1 |
| Barshop, BA | 1 |
| Breuer, J | 1 |
| Holm, J | 1 |
| Leslie, J | 1 |
| Cyr, DM | 1 |
| Tremblay, GC | 1 |
| Kopieczna-Grzebieniak, E | 1 |
| Toborek, M | 1 |
| Jakubowska, D | 1 |
| Tarnawski, R | 1 |
| Drukker, J | 1 |
| Hjelm, M | 1 |
| de Silva, LV | 1 |
| Seakins, JW | 1 |
| Rolles, CJ | 1 |
| Hoogenraad, NJ | 3 |
| Weston, HJ | 1 |
| Mackenzie, N | 1 |
| Skovby, F | 2 |
| Schwartz, M | 1 |
| Christensen, E | 1 |
| Christensen, NC | 1 |
| Colombo, M | 1 |
| Montoya, F | 1 |
| Bellet, H | 1 |
| Bonnet, H | 1 |
| Oyanagi, K | 1 |
| Kuniya, Y | 1 |
| Tsuchiyama, A | 1 |
| Nakao, T | 1 |
| Owada, E | 1 |
| Sato, J | 1 |
| Ito, K | 1 |
| Gregersen, N | 1 |
| Schubiger, G | 1 |
| Kolodny, EH | 1 |
| Yatziv, S | 1 |
| Shinka, T | 1 |
| Inoue, Y | 1 |
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| Matsumoto, M | 1 |
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| Rosenberg, LE | 1 |
| Snodgrass, PJ | 4 |
| Nuzum, CT | 1 |
| Thaler, MM | 1 |
| Boswell, M | 1 |
| Levin, B | 5 |
| Sinclair, L | 1 |
| Holtzman, NA | 1 |
| Malmquist, J | 2 |
| Hetter, B | 1 |
| Potter, JL | 1 |
| Timmons, GD | 1 |
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| Silvidi, AA | 1 |
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| Hsia, YE | 1 |
| Moore, EC | 1 |
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| Batko, B | 1 |
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| Lebedev, BV | 1 |
| Menkes, JH | 1 |
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| Nicholson, JF | 2 |
| Freeman, JM | 2 |
| Scott-Emuakpor, A | 1 |
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| Bruton, CJ | 1 |
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| Van Sande, M | 1 |
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| Tamura, E | 1 |
| Jagenburg, R | 1 |
| Lindstedt, G | 1 |
| Brown, H | 1 |
| Michelson, P | 1 |
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| Hopkins, IJ | 1 |
| Connelly, JF | 1 |
| Hocking, B | 1 |
| Maddison, TG | 1 |
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| McCredie, DA | 1 |
| Abraham, JM | 1 |
| Dobbs, RH | 1 |
| Ziegler, K | 1 |
| Chevrel, B | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| 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] | |||||||
(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 |
23 reviews available for ammonium hydroxide and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.
Topics: Abnormalities, Multiple; Adolescent; Ammonia; Chromosomes, Human, Pair 5; Comparative Genomic Hybrid | 2020 |
Adult nonhepatic hyperammonemia: a case report and differential diagnosis.
Topics: Ammonia; Diagnosis, Differential; Humans; Hyperammonemia; Liver Diseases; Male; Metabolism, Inborn E | 2010 |
Problems in the management of urea cycle disorders.
Topics: Adult; Ammonia; Female; Humans; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Defi | 2004 |
Hyperammonemia in the ICU.
Topics: Acute Disease; Algorithms; Ammonia; Astrocytes; Brain; Brain Edema; Cerebral Hemorrhage; Critical Ca | 2007 |
Nutritional management of patients with urea cycle disorders.
Topics: Adolescent; Adult; Ammonia; Child; Child, Preschool; Diet Therapy; Enzymes; Female; Humans; Hyperamm | 2007 |
Neurological implications of urea cycle disorders.
Topics: Ammonia; Brain; Cognition; Enzymes; Female; Humans; Hyperammonemia; Magnetic Resonance Imaging; Male | 2007 |
Inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Diagnosis, Di | 1994 |
Inherited and acquired syndromes of hyperammonemia and encephalopathy in children.
Topics: Ammonia; Child; Hepatic Encephalopathy; Humans; Liver Diseases; Metabolism, Inborn Errors; Reye Synd | 1994 |
Urea cycle disorders: clinical paradigm of hyperammonemic encephalopathy.
Topics: Adult; Alkalosis, Respiratory; Ammonia; Brain Diseases; Brain Edema; Diagnosis, Differential; Female | 1995 |
Inborn errors of metabolism in infancy: a guide to diagnosis.
Topics: Acidosis; Algorithms; Ammonia; Brain Diseases; Congenital Abnormalities; Humans; Hypoglycemia; Infan | 1998 |
Urea biosynthesis II. Normal and abnormal regulation.
Topics: Adrenal Cortex Hormones; Adrenal Glands; Ammonia; Animals; Argininosuccinate Synthase; Argininosucci | 1978 |
[Reye's syndrome].
Topics: Ammonia; Fatty Liver; Humans; Hypoglycemia; Liver; Metabolism, Inborn Errors; Mitochondria, Liver; R | 1976 |
Inborn errors as causes of acute disease in infancy.
Topics: Acidosis, Lactic; Acute Disease; Ammonia; Galactosemias; Humans; Hyperglycemia; Infant; Infant, Newb | 1991 |
Clinical approach to inherited metabolic disorders in neonates.
Topics: Acidosis, Lactic; Ammonia; Energy Metabolism; Hepatomegaly; Humans; Hypoglycemia; Infant, Newborn; K | 1990 |
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Topics: Acidosis; Acyl Coenzyme A; Acyl-CoA Dehydrogenase, Long-Chain; Ammonia; Carboxylic Acids; Chemical P | 1985 |
Dietary treatment of inborn errors of metabolism.
Topics: Ammonia; Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Female; Fructose; Galactosemias; Glyc | 1970 |
Genetically expressed abnormalities in the fetus.
Topics: Adrenal Insufficiency; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Ammonia; Anemia, S | 1974 |
Inherited hyperammonemic syndromes.
Topics: Acidosis; Amino Acids; Ammonia; Animals; Arginine; Brain; Brain Diseases; Chemical and Drug Induced | 1974 |
[Hyperammoniemia and its treatment].
Topics: Ammonia; Arginine; Aspartic Acid; Humans; Ketoglutaric Acids; Liver; Malates; Metabolism, Inborn Err | 1973 |
[Some problems of hyperammonemia].
Topics: Ammonia; Arginase; Enzymes; Humans; Ligases; Liver Cirrhosis; Lyases; Metabolic Diseases; Metabolism | 1969 |
[Hereditary enzyme defects of the urea cycle].
Topics: Adult; Ammonia; Arginase; Arginine; Child; Child, Preschool; Citrulline; Enzymes; Female; Humans; In | 1971 |
Congenital disorders of the urea cycle and ammonia detoxication.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Brain; Chromosome Aberrations; Fetus; Humans | 1971 |
[Mental retardation and hereditary enzymopathy (review)].
Topics: Ammonia; Carboxy-Lyases; Child; Child, Preschool; Eye Diseases; Galactosemias; Growth Disorders; Har | 1971 |
3 trials available for ammonium hydroxide and Inborn Errors of Metabolism
| 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 |
A nonischemic forearm exercise test for McArdle disease.
Topics: Adult; Ammonia; Exercise; Exercise Test; Female; Forearm; Glycogen Storage Disease Type V; Hand Stre | 2002 |
[Efficacy of various therapeutic measures in metabolic hyperammonemia].
Topics: Ammonia; Child; Child, Preschool; Exchange Transfusion, Whole Blood; Female; Humans; Infant, Newborn | 1997 |
135 other studies available for ammonium hydroxide and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders.
Topics: Aged; Ammonia; Child; Continuous Renal Replacement Therapy; Hemodiafiltration; Humans; Hypotension; | 2022 |
Acute hemodialysis therapy in neonates with inborn errors of metabolism.
Topics: Ammonia; Child; Humans; Infant, Newborn; Leucine; Metabolism, Inborn Errors; Renal Dialysis; Retrosp | 2022 |
Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.
Topics: Ammonia; Child; Humans; Hyperammonemia; Infant, Newborn; Metabolism, Inborn Errors; Renal Replacemen | 2022 |
Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre.
Topics: Ammonia; Blood Glucose; Humans; Infant; Infant, Newborn; Lactates; Metabolic Diseases; Metabolism, I | 2022 |
Time-dependent negative bias in plasma ammonia samples in a clinical setting.
Topics: Ammonia; Bias; Blood Chemical Analysis; Hepatic Encephalopathy; Humans; Metabolism, Inborn Errors; T | 2017 |
Effects of inoculants and environmental temperature on fermentation quality and bacterial diversity of alfalfa silage.
Topics: Ammonia; Bacterial Load; Fermentation; Food Quality; Gene Silencing; Hydrogen-Ion Concentration; Lac | 2018 |
An infant with hypercalcemia and hyperammonia: inborn error of metabolism or not? Answers.
Topics: Acidosis, Renal Tubular; Administration, Oral; Ammonia; Diagnosis, Differential; Exome Sequencing; F | 2019 |
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 2018 |
Prognostic parameters of pediatric acute liver failure and the role of plasma exchange.
Topics: Adolescent; alpha-Fetoproteins; Ammonia; Antithyroid Agents; Chemical and Drug Induced Liver Injury; | 2019 |
Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism.
Topics: Ammonia; Brain Diseases; Child; Delayed Diagnosis; Delirium; Emergency Service, Hospital; Humans; Hy | 2019 |
Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism.
Topics: Ammonia; Female; Hemodiafiltration; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Renal | 2019 |
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Topics: Adolescent; Adult; Amino Acids; Ammonia; Autism Spectrum Disorder; Blood Gas Analysis; Carnitine; Ch | 2016 |
Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism.
Topics: Ammonia; Child; Female; Humans; Hyperammonemia; Infant; Infant, Newborn; Male; Metabolism, Inborn Er | 2010 |
Continuous hemofiltration in the control of neonatal hyperammonemia: a 10-year experience.
Topics: Ammonia; Anticoagulants; England; Female; Hemodynamics; Hemofiltration; Humans; Hyperammonemia; Infa | 2010 |
Hyperammonemia in the pediatric emergency care setting.
Topics: Ammonia; Brain Damage, Chronic; Child; Child, Preschool; Consciousness Disorders; Critical Illness; | 2010 |
Second case of a successful pregnancy in maternal isovaleric acidaemia.
Topics: Adult; Ammonia; Apgar Score; Consanguinity; Female; Hemiterpenes; Humans; Infant, Newborn; Male; Met | 2002 |
A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia.
Topics: Adolescent; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Diagnosis, Differential; DNA, Complemen | 2005 |
Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency.
Topics: alpha-Fetoproteins; Ammonia; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Acidur | 2006 |
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?
Topics: Ammonia; Female; Humans; Hyperammonemia; Infant, Newborn; Male; Metabolism, Inborn Errors; Peritonea | 2008 |
Hyperammonaemia.
Topics: Ammonia; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism, | 1967 |
Liver pathology in transient neonatal hyperammonemia.
Topics: Ammonia; Humans; Infant, Newborn; Liver; Male; Metabolism, Inborn Errors; Microscopy, Electron; Mito | 1983 |
Treatment of congenital hyperammonemias.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Humans; Metabolism, Inborn Erro | 1984 |
[Nutrition in congenital metabolic diseases].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Carbohydrate Metabolism, Inborn Errors; | 1984 |
[Neonatal hyperammonemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Carbamoyl-Phosphate Syntha | 1983 |
Screening of high risk infants for metabolic disease in a metropolitan hospital.
Topics: Amino Acids; Ammonia; Carboxylic Acids; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lactates | 1981 |
Organic acidaemia and Hyperammonaemia: review.
Topics: Acetyl Coenzyme A; Ammonia; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carboxylic Acids; Coenz | 1981 |
[Metabolic emergencies in the newborn infant].
Topics: Ammonia; Critical Care; Emergencies; Humans; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup | 1983 |
Inborn errors of metabolism in acutely sick children.
Topics: Acids; Amino Acids; Ammonia; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Fem | 1982 |
The treatment of inborn errors of the urea cycle.
Topics: Ammonia; Arginine; Humans; Metabolism, Inborn Errors; Ornithine; Urea | 1981 |
National Institutes of Health. Treating infants born with once-fatal genetic diseases.
Topics: Ammonia; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Quaternary Ammonium Compounds; | 1981 |
[Urinary orotic acid excretion - a sensitive indicator of ammonia detoxication].
Topics: Ammonia; Humans; Metabolism, Inborn Errors; Orotic Acid | 1981 |
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Child, Preschool; Citrulline; Female | 1980 |
Developmental deficiency of the cholinergic system in congenitally hyperammonemic spf mice: effect of acetyl-L-carnitine.
Topics: Acetylcarnitine; Acetylcholinesterase; Ammonia; Animals; Brain; Carnitine; Choline; Choline O-Acetyl | 1995 |
Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy.
Topics: Ammonia; Brain Edema; Female; Humans; Infant, Newborn; Liver Transplantation; Male; Metabolism, Inbo | 1995 |
Quinolinic acid in children with congenital hyperammonemia.
Topics: Ammonia; Biogenic Amines; Biopterins; Child, Preschool; Coma; Humans; Hydroxyindoleacetic Acid; Infa | 1993 |
Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase.
Topics: Amino Acids; Ammonia; Animals; Behavior, Animal; Female; Male; Metabolism, Inborn Errors; Mice; Mice | 1994 |
Unusual presentations of propionic acidemia.
Topics: Abnormalities, Multiple; Ammonia; Brain Diseases; Carboxy-Lyases; Cerebral Hemorrhage; Child, Presch | 1994 |
Inherited metabolic disorders in Pakistan: presentation, diagnosis and outcome of congenital hyperammonemias.
Topics: Ammonia; Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Pakistan | 1994 |
Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency.
Topics: Adult; Ammonia; Coma; Fatal Outcome; Humans; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltra | 1994 |
Activities of monoamine oxidase-A and -B are altered in the brains of congenitally hyperammonemic sparse-fur (spf) mice.
Topics: Ammonia; Animals; Brain; Brain Chemistry; Male; Metabolism, Inborn Errors; Mice; Mice, Neurologic Mu | 1994 |
Diagnosis and outcome of congenital hyperammonemias.
Topics: Acidosis; Ammonia; Developing Countries; Diagnosis, Differential; Female; Follow-Up Studies; Humans; | 1993 |
Ornithine transcarbamylase deficiency: case report and review.
Topics: Ammonia; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase De | 1995 |
Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia.
Topics: Ammonia; Coma; Extracorporeal Membrane Oxygenation; Female; Hemofiltration; Humans; Infant, Newborn; | 1996 |
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse.
Topics: Ammonia; Animals; Brain Damage, Chronic; Disease Models, Animal; Glutamine; Hair; Metabolism, Inborn | 1995 |
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Topics: Age of Onset; Ammonia; Female; Humans; Infant, Newborn; Liver; Male; Metabolism, Inborn Errors; Mult | 1996 |
Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient.
Topics: Adult; Ammonia; Fatal Outcome; Female; Hemofiltration; Heterozygote; Humans; Liver Transplantation; | 1997 |
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.
Topics: Ammonia; Child; Child, Preschool; DNA Mutational Analysis; Female; Glutamate Dehydrogenase; Humans; | 1998 |
Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration.
Topics: Ammonia; Fatal Outcome; Hemofiltration; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Pe | 1998 |
Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate.
Topics: Acetyltransferases; Adolescent; Amino-Acid N-Acetyltransferase; Ammonia; Female; Glutamates; Humans; | 1998 |
Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.
Topics: Adolescent; Adult; Alanine; Amino Acids; Ammonia; Asparagine; Carbon-Nitrogen Ligases; Child; Child, | 1999 |
Neonatal type of nonketotic hyperglycinemia.
Topics: Ammonia; Brain; Female; Glycine; Humans; Infant, Newborn; Lactic Acid; Magnetic Resonance Imaging; M | 1999 |
Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics.
Topics: Adenosine Diphosphate; Ammonia; Base Sequence; Dose-Response Relationship, Drug; Genetic Markers; Ge | 1999 |
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Topics: Adolescent; Adult; Age of Onset; Ammonia; Child; Child, Preschool; Diet, Protein-Restricted; Female; | 2000 |
A novel mutation, P126R, in a Japanese patient with HHH syndrome.
Topics: Adolescent; Ammonia; Base Sequence; Brain Diseases; Carrier Proteins; Cysts; DNA Primers; Exons; Gen | 2002 |
Diagnosis of urea cycle disorders.
Topics: Amino Acids; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Hy | 1977 |
Hereditary ornithine transcarbamylase deficiency. Report of two male cases with residual enzymatic activity.
Topics: Amino Acids; Ammonia; Arginase; Argininosuccinate Lyase; Child; Female; Humans; Infant; Liver; Male; | 1975 |
[Reflections apropos of observations of children with hereditary metabolic diseases].
Topics: Adolescent; Ammonia; Child; Child Development; Child, Preschool; Female; Fructose Intolerance; Glyco | 1978 |
Double deficiencies of urea cycle enzymes in human liver.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1979 |
Transient hyperammonemia of the preterm infant.
Topics: Ammonia; Diagnosis, Differential; Exchange Transfusion, Whole Blood; Female; Humans; Infant, Newborn | 1978 |
[Enzymology in clinical medicine (author's transl)].
Topics: Adult; Alkaline Phosphatase; Ammonia; Clinical Enzyme Tests; Enzyme Inhibitors; Enzyme Therapy; Enzy | 1978 |
[Demonstration of portocaval encephalopathy in children].
Topics: Acute Disease; Adolescent; Ammonia; Child; Child, Preschool; Dietary Proteins; Electroencephalograph | 1978 |
An approach to the diagnosis of overwhelming metabolic disease in early infancy.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Chromatography, Gas; Diagnosis, Differen | 1977 |
The mechanism of postshunt liver failure.
Topics: Ammonia; Animals; Body Weight; DNA; Dogs; Enzyme Induction; Insulin; Liver; Liver Diseases; Metaboli | 1977 |
Familial hyperargininaemia.
Topics: Amino Acids; Ammonia; Arginine; Athetosis; Child, Preschool; Chromatography; Cystinuria; Dietary Pro | 1975 |
[Congenital disorders of metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Fructose Intolerance; Glutathione Reductase; | 1975 |
Quinolinate in brain and cerebrospinal fluid in rat models of congenital hyperammonemia.
Topics: Acetates; Ammonia; Animals; Brain; Disease Models, Animal; Hydroxyindoleacetic Acid; Male; Metabolis | 1992 |
EEG changes during recovery from acute severe neonatal citrullinemia.
Topics: Ammonia; Brain; Brain Diseases; Citrulline; Electroencephalography; Humans; Infant, Newborn; Male; M | 1991 |
Fifteen years' experience with 212 hyperammonaemic cases at a metabolic unit.
Topics: Ammonia; Carboxylic Acids; Female; Hepatomegaly; Humans; Infant; Infant, Newborn; Liver Diseases; Ma | 1991 |
Role of the clinical laboratory in evaluation of argininosuccinate lyase deficiency.
Topics: Amino Acids; Ammonia; Argininosuccinic Aciduria; Child, Preschool; Chromatography, High Pressure Liq | 1991 |
[Hyperlysinemia and hyperammonemia].
Topics: Ammonia; Female; Humans; Infant, Newborn; Lysine; Male; Metabolism, Inborn Errors; Retrospective Stu | 1991 |
Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia.
Topics: Acidosis; Amino Acids; Ammonia; Child, Preschool; Female; Fibroblasts; Humans; Ketones; Ketosis; Met | 1991 |
gamma-Glutamylglutamine identified in plasma and cerebrospinal fluid from hyperammonaemic patients.
Topics: Ammonia; Child; Chromatography, Ion Exchange; Dipeptides; Humans; Infant; Infant, Newborn; Metabolis | 1990 |
Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Topics: Adult; Ammonia; Citrulline; Female; Fibroblasts; Glutamine; Humans; Leucine; Male; Metabolism, Inbor | 1990 |
Transient hyperammonemia in a newborn.
Topics: Ammonia; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors | 1990 |
Haloperidol-induced hyperammonaemia in a child with citrullinaemia.
Topics: Ammonia; Attention Deficit Disorder with Hyperactivity; Child, Preschool; Citrulline; Haloperidol; H | 1990 |
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.
Topics: Acid-Base Equilibrium; Acute Disease; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Age Factors; | 1990 |
Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Child, Preschool; Female; Gl | 1989 |
On combination therapy with benzoate and piridoxilate.
Topics: Ammonia; Benzoates; Benzoic Acid; Drug Synergism; Humans; Metabolism, Inborn Errors; Pyridoxine | 1989 |
[Hyperammonemia in childhood. II. Enzymopathies not related to the urea cycle].
Topics: Acidosis; Ammonia; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Isomerases; Isovaleryl- | 1988 |
[Mother was right; a misdiagnosed syndrome].
Topics: Adult; Ammonia; Atrophy; Autistic Disorder; Brain; Diagnosis, Differential; Female; Humans; Metaboli | 1989 |
Evidence of inherited urea cycle defect in a case of fatal valproate toxicity.
Topics: Adult; Ammonia; Child; Child, Preschool; Female; Humans; Male; Metabolism, Inborn Errors; Middle Age | 1986 |
Immunological evidence for a carbamylphosphate synthetase lesion resulting in the formation of enzyme with altered sub-unit size.
Topics: Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Immunochemistry; Infant; Intestine, Small; | 1986 |
[Hyperammonemia in children].
Topics: Ammonia; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Prenat | 1988 |
[Prenatal diagnosis of ornithine transcarbamylase deficiency using a DNA marker analysis].
Topics: Adult; Ammonia; Female; Genetic Markers; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; O | 1988 |
[Inborn errors of metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Infant; Infant, Newborn; Metabolism, Inborn E | 1988 |
[Transient symptomatic neonatal hyperammonemia].
Topics: Ammonia; Coma; Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Respiratory Distres | 1987 |
Nonlinear elimination of benzoate in patients with congenital hyperammonemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Child; Female; Humans; Kinetics; Ma | 1987 |
Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Ammonia; Humans; Infant, Newborn; Liver; Male; M | 1985 |
Laboratory approaches for inherited neurometabolic diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Galactosemias; Homocystinuria; Humans; Lactates; Lact | 1985 |
Benzoylalanine: detection and identification of an alanine conjugate with benzoic acid in hyperammonemic patients treated with sodium benzoate.
Topics: Alanine; Ammonia; Benzoates; Benzoic Acid; Carboxylic Acids; Child, Preschool; Chromatography, Gas; | 1985 |
Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.
Topics: Ammonia; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Metabolism, Inborn Errors | 1971 |
Reye's syndrome due to a novel protein-tolerant variant of ornithine-transcarbamylase deficiency.
Topics: Ammonia; Brain Diseases; Child; Fatty Liver; Female; Hepatic Encephalopathy; Humans; Kinetics; Liver | 1974 |
Biochemical investigations of hyperammonaemia.
Topics: Amino Acids; Ammonia; Ammonium Chloride; Citric Acid Cycle; Diet Therapy; Dietary Proteins; Female; | 1969 |
Hyperammonaemia.
Topics: Ammonia; Citric Acid Cycle; Humans; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Urea | 1969 |
Leucocyte glutaminase in familial protein intolerance.
Topics: Adult; Ammonia; Female; Glutaminase; Humans; In Vitro Techniques; Leukocytes; Metabolism, Inborn Err | 1970 |
Arginosuccinicaciduria. The hair abnormality.
Topics: Amino Acids; Ammonia; Arginine; Ataxia; Blood Urea Nitrogen; Child, Preschool; Chromatography, Paper | 1974 |
Screening for ADA deficiency.
Topics: Adenosine; Aminohydrolases; Ammonia; Humans; Hydrogen-Ion Concentration; Immunologic Deficiency Synd | 1974 |
Methylmalonyl coenzyme A racemase defect: another cause of methylmalonic aciduria.
Topics: Acidosis; Ammonia; Carbon Isotopes; Cells, Cultured; Cobamides; Coenzyme A; Fibroblasts; Humans; Inf | 1972 |
[Hyperammoniemia caused by genotypic enzymopathies].
Topics: Ammonia; Female; Humans; Male; Metabolism, Inborn Errors; Neurologic Manifestations; Urea | 1972 |
[Congenital hyperammoniemia caused by ornithine carbamoyl-transferase and carbamyl phosphate synthetase deficiency].
Topics: Adenosine Triphosphate; Alanine; Amino Acids; Ammonia; Arginine; Biopsy; Blood Urea Nitrogen; Carbam | 1972 |
Ornithine transcarbamylase deficiency in the newborn infant.
Topics: Acidosis; Amino Acids; Ammonia; Autopsy; Blood Urea Nitrogen; Coma; Exchange Transfusion, Whole Bloo | 1973 |
Hyperglutamatemia in primary gout.
Topics: Adult; Aged; Alanine; Ammonia; Chromatography; Fasting; Glutamates; Glutamine; Glycine; Gout; Humans | 1973 |
[Constitutional hyperammonemia with carbamoylphosphate synthetase deficiency. Course treatment during dietetic].
Topics: Amino Acids; Ammonia; Biopsy; Chromatography; Dietary Proteins; Humans; Infant; Liver; Liver Functio | 1973 |
Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.
Topics: Ammonia; Ammonium Chloride; Brain; Citrates; Dietary Proteins; Estradiol; Glucose; Heterozygote; Hum | 1974 |
Lethal neonatal deficiency of carbamyl phosphate synthetase.
Topics: Amino Acids; Ammonia; Carbamates; Cells, Cultured; Chromatography; Cytoplasm; Fibroblasts; Glutamate | 1974 |
Argininosuccinic aciduria: perinatal diagnosis and early dietary management.
Topics: Adult; Ammonia; Amniotic Fluid; Arginine; Blood; Child, Preschool; Chromatography, Ion Exchange; Die | 1974 |
Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families.
Topics: Alanine; Ammonia; Arginine; Child, Preschool; Citrulline; Female; Genes, Dominant; Genetic Linkage; | 1974 |
In vitro "responsive" methylmalonic acidemia: a new variant.
Topics: Amino Acids; Ammonia; Carbon Dioxide; Carbon Radioisotopes; Cells, Cultured; Child, Preschool; Cobam | 1974 |
Neurologic disorders and liver disease.
Topics: Adipose Tissue; Ammonia; Brain Diseases; Citrulline; Fatty Liver; Galactosemias; Hepatic Encephalopa | 1971 |
Biochemical approaches to the nosology of nervous system defects, III.
Topics: Ammonia; Biopsy; Brain; Brain Chemistry; Brain Diseases; Cells, Cultured; Chromatography; Fabry Dise | 1971 |
Early dietary management in an infant with argininosuccinase deficiency: preliminary report.
Topics: Ammonia; Arginine; Blood Urea Nitrogen; Child Development; Child, Preschool; Citrulline; Diet Therap | 1972 |
[Hyperammonemia--congenital abnormality of the urea cycle].
Topics: Amino Acids; Ammonia; Animals; Arginase; Carbamates; DNA; Female; Humans; Infant; Kinetics; Ligases; | 1972 |
Metabolism of compounds labeled with 15 N by an infant with congenital hyperammonemia.
Topics: Ammonia; Female; Humans; Infant; Metabolism, Inborn Errors; Nitrogen | 1972 |
Citrullinemia: a new case, with implications concerning adaptation to defective urea synthesis.
Topics: Adult; Amino Acids; Ammonia; Citrulline; Dietary Proteins; Fibroblasts; Humans; Intellectual Disabil | 1972 |
Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.
Topics: Ammonia; Chromatography, Gas; Coma; Humans; Infant; Infusions, Parenteral; Liver; Male; Metabolism, | 1972 |
Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase.
Topics: Amino Acids; Ammonia; Animals; Autopsy; Clinical Enzyme Tests; Culture Techniques; Female; Humans; I | 1971 |
[On an until now unknown disease of a congenital metabolic disorder].
Topics: Ammonia; Brain Diseases; Metabolism, Inborn Errors; Nursing | 1966 |
[On a unusual brain atrophy syndrome in hyperammonemia in childhood].
Topics: Ammonia; Atrophy; Biopsy; Brain Damage, Chronic; Cerebral Ventriculography; Child; Electroencephalog | 1966 |
[A cerebral atrophic syndrome in hypoammoniemia].
Topics: Adolescent; Ammonia; Central Nervous System Diseases; Cerebral Ventriculography; Child; Child, Presc | 1968 |
Blood ammonia in portal hypertension and liver diseases in children.
Topics: Adolescent; Adult; Age Factors; Ammonia; Ammonium Chloride; Chemical and Drug Induced Liver Injury; | 1969 |
Hereditary hyperammonaemia.
Topics: Ammonia; Autopsy; Basal Ganglia; Brain; Brain Stem; Cerebellum; Cerebral Cortex; Cerebral Ventricles | 1970 |
Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis.
Topics: Ammonia; Coma; Diet Therapy; Female; Humans; Infant; Intellectual Disability; Liver; Metabolism, Inb | 1969 |
Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.
Topics: Amino Acids; Ammonia; Citric Acid Cycle; Female; Glycine; Humans; Infant, Newborn; Metabolism, Inbor | 1970 |
Hyperammonemia: a deficiency of liver ornithine transcarbamylase.
Topics: Ammonia; Biopsy; Female; Humans; Infant; Liver; Metabolism, Inborn Errors; Ornithine Carbamoyltransf | 1970 |
Familial protein intolerance. Possible nature of enzyme defect.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Tran | 1971 |
Abnormalities of ammonia metabolism.
Topics: Ammonia; Child; Humans; Metabolism, Inborn Errors | 1968 |
[Hereditary anomalies of the urea cycle].
Topics: Ammonia; Arginine; Citrulline; Humans; Ligases; Lyases; Metabolism, Inborn Errors; Ornithine Carbamo | 1968 |
Neurological abnormalities in primary hyperammonaemia.
Topics: Ammonia; Diet Therapy; Dietary Proteins; Female; Humans; Infant; Intellectual Disability; Lysine; Me | 1968 |
[Cerebral atrophic syndrome in hyperammonemia in children].
Topics: Ammonia; Brain Damage, Chronic; Child; Female; Humans; Metabolism, Inborn Errors; Sex Factors | 1968 |
[On the diagnosis and therapy of metabolic brain damage in childhood].
Topics: Ammonia; Brain Damage, Chronic; Child; Child, Preschool; Diet Therapy; Female; Humans; Male; Metabol | 1969 |
Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia.
Topics: Ammonia; Female; Humans; Infant; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Peritone | 1969 |
Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.
Topics: Adult; Amino Acids; Ammonia; Ammonium Chloride; Citrates; Citric Acid Cycle; Diet Therapy; Dietary P | 1969 |
Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.
Topics: Alanine; Amino Acids; Ammonia; Arginine; Citrates; Citric Acid Cycle; Diet Therapy; Dietary Proteins | 1969 |
The hyper-ammonemia and its treatment.
Topics: Ammonia; Humans; Metabolism, Inborn Errors; Urea | 1969 |
[Hyperammonemia due to an inborn error of metabolism. Ornithine-transcarbamylase deficiency].
Topics: Ammonia; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Weaning | 1969 |