urea has been researched along with Metabolism, Inborn Errors in 133 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| " 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) |
| " In contrast, hyperargininemia found in patients with arginase 1 deficiency is associated with pyramidal tract findings and spasticity, without significant hyperammonemia." | 4.82 | Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. ( Brunetti-Pierri, N; Carter, S; Garlick, P; Jahoor, F; Kleppe, S; Lee, B; Marini, J; O'Brien, W; Scaglia, F, 2004) |
| " 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) |
| "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) |
| " 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) |
| " The 1H-NMR metabolic profile from the urine of patients with citrullinaemia and argininosuccinic aciduria consistently demonstrated the presence of the diagnostic metabolites citrulline, N-acetylcitrulline and argininosuccinate, respectively." | 3.68 | Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy. ( Burns, SP; Iles, RA; Leonard, JV; Woolf, DA, 1992) |
| " 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) |
| "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) |
| "Treatment of urea cycle disorders and related metabolic diseases consists of nutritional restriction of proteins, administration of specific amino acids, and use of alternative pathways for discarding excess nitrogen." | 2.42 | Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood. ( Endo, F; Matsuda, I; Matsuura, T; Yanagita, K, 2004) |
| "Some inborn errors of metabolism respond to vitamin therapy." | 2.38 | Nutritional therapy for selected inborn errors of metabolism. ( Levy, HL, 1989) |
| "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) |
| "We here describe an infant with respiratory alkalosis within the first two days of life and a high plasma level of ammonia (> 700 micromol/L)." | 1.35 | [A newborn infant with hyperventilation]. ( Bakken, M; Fugelseth, D; Lindemann, R; Myhre, MC; Rustad, CF; Woldseth, B, 2008) |
| " Ambiguous medical prescriptions and inadequate cross-checking of drug dosage by physicians, nurses and pharmacists were the main causes of these incidents." | 1.31 | Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia. ( Boyadjiev, SA; Brusilow, SW; Geraghty, MT; Praphanphoj, V; Waber, LJ, 2000) |
| "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) |
| "The results show that liver tissue from OTC deficiency patients exhibited an increased ratio of uridine nucleotides to adenosine nucleotides, while in CPS-I deficiency patients, no such increase was noted." | 1.29 | Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. ( Lambert, M; Qureshi, IA; Rajalakshmi, S; Rao, PM; Sarma, DS; Vasudevan, S, 1995) |
| "Hyperlysinemia was observed with neonatal propionic and methylmalonic acidurias." | 1.28 | [Hyperlysinemia and hyperammonemia]. ( Bardet, J; Kamoun, P; Parvy, P; Rabier, D, 1991) |
| "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 | 63 (47.37) | 18.7374 |
| 1990's | 29 (21.80) | 18.2507 |
| 2000's | 33 (24.81) | 29.6817 |
| 2010's | 6 (4.51) | 24.3611 |
| 2020's | 2 (1.50) | 2.80 |
| Authors | Studies |
|---|---|
| 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 |
| 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 |
| Burrage, LC | 1 |
| Thistlethwaite, L | 1 |
| Stroup, BM | 1 |
| Sun, Q | 1 |
| Miller, MJ | 1 |
| Nagamani, SCS | 1 |
| Craigen, W | 1 |
| Scaglia, F | 2 |
| Sutton, VR | 1 |
| Graham, B | 1 |
| Kennedy, AD | 1 |
| Milosavljevic, A | 1 |
| Lee, BH | 1 |
| Elsea, SH | 1 |
| Pey, AL | 2 |
| Lindemann, R | 1 |
| Myhre, MC | 1 |
| Bakken, M | 1 |
| Fugelseth, D | 1 |
| Rustad, CF | 1 |
| Woldseth, B | 1 |
| Reigstad, H | 1 |
| Enns, GM | 2 |
| Poo, JL | 1 |
| Cervera, E | 1 |
| de Hoyos, A | 1 |
| Gil, S | 1 |
| Cadena, M | 1 |
| Uribe, M | 1 |
| Sehli, S | 1 |
| Nugent, KM | 1 |
| Samathanam, CA | 1 |
| Alalawi, R | 1 |
| Krivitzky, L | 1 |
| Babikian, T | 1 |
| Lee, HS | 1 |
| Thomas, NH | 1 |
| Burk-Paull, KL | 1 |
| Batshaw, ML | 3 |
| Shoemaker, JD | 2 |
| LaBuzetta, JN | 1 |
| Yao, JZ | 1 |
| Bourque, DL | 1 |
| Zivin, J | 1 |
| Galal, NM | 1 |
| Fouad, HM | 1 |
| Saied, A | 1 |
| Dabnon, M | 1 |
| Mesa-Torres, N | 1 |
| Chiarelli, LR | 1 |
| Valentini, G | 1 |
| Wasant, P | 1 |
| Srisomsap, C | 1 |
| Liammongkolkul, S | 1 |
| Svasti, J | 1 |
| Mian, A | 1 |
| Lee, B | 3 |
| Chen, M | 1 |
| Hofestädt, R | 1 |
| KREPLER, P | 1 |
| BREITFELLNER, G | 1 |
| ZEITLHOFER, J | 1 |
| Bachmann, C | 4 |
| Siitonen, A | 1 |
| Salo, MK | 1 |
| Leonard, JV | 6 |
| McKiernan, PJ | 1 |
| Wilcken, B | 2 |
| Häberle, J | 1 |
| Koch, HG | 1 |
| Endo, F | 1 |
| Matsuura, T | 2 |
| Yanagita, K | 1 |
| Matsuda, I | 5 |
| Brunetti-Pierri, N | 1 |
| Kleppe, S | 1 |
| Marini, J | 1 |
| Carter, S | 1 |
| Garlick, P | 1 |
| Jahoor, F | 2 |
| O'Brien, W | 2 |
| Görker, I | 1 |
| Tüzün, U | 1 |
| Nassogne, MC | 1 |
| Héron, B | 1 |
| Touati, G | 1 |
| Rabier, D | 3 |
| Saudubray, JM | 1 |
| Acosta, PB | 1 |
| Yannicelli, S | 1 |
| Ryan, AS | 1 |
| Arnold, G | 1 |
| Marriage, BJ | 1 |
| Plewinska, M | 1 |
| Bernstein, L | 1 |
| Fox, J | 1 |
| Lewis, V | 1 |
| Miller, M | 1 |
| Velazquez, A | 1 |
| Tan, IK | 1 |
| Gajra, B | 1 |
| Lim, MS | 1 |
| Ward Platt, MP | 1 |
| Morris, AA | 2 |
| Pela, I | 1 |
| Seracini, D | 1 |
| Donati, MA | 1 |
| Lavoratti, G | 1 |
| Pasquini, E | 1 |
| Materassi, M | 1 |
| Deignan, JL | 1 |
| Cederbaum, SD | 3 |
| Grody, WW | 1 |
| Clay, AS | 1 |
| Hainline, BE | 1 |
| Maillot, F | 1 |
| Crenn, P | 1 |
| Singh, RH | 1 |
| Gropman, AL | 1 |
| Summar, M | 1 |
| Lien, J | 1 |
| Nyhan, WL | 2 |
| Barshop, BA | 1 |
| Atiq, M | 1 |
| Holt, AF | 1 |
| Safdar, K | 1 |
| Weber, F | 1 |
| Ravinuthala, R | 1 |
| Jonas, ME | 1 |
| Neff, GW | 1 |
| Feinstein, RN | 2 |
| Braun, JT | 1 |
| Howard, JB | 1 |
| Oberholzer, VG | 4 |
| Levin, B | 3 |
| Burgess, EA | 1 |
| Young, WF | 1 |
| Barela, TD | 1 |
| Johnson, JD | 1 |
| Hayek, A | 1 |
| Jaeken, J | 1 |
| Devlieger, H | 1 |
| Evens, M | 1 |
| Casaer, P | 1 |
| Eggermont, E | 1 |
| Brusilow, SW | 5 |
| Smith, I | 1 |
| Rubio, V | 2 |
| Grisolía, S | 1 |
| Ribes, A | 1 |
| Riudor, E | 1 |
| Valcárel, R | 1 |
| Salvá, A | 1 |
| Castelló, F | 1 |
| Murillo, S | 1 |
| Dominguez, C | 1 |
| Rötig, A | 1 |
| Jakobs, C | 1 |
| Kamoun, P | 2 |
| Fensom, AH | 1 |
| Shin, YS | 1 |
| Bakker, E | 1 |
| Colombo, JP | 6 |
| Munnich, A | 1 |
| Bird, S | 1 |
| Canini, S | 1 |
| Huijmans, JG | 1 |
| Chadefaux-Vekemans, B | 1 |
| Jan, D | 1 |
| Laurent, J | 1 |
| Lacaille, F | 1 |
| Jouvet, P | 1 |
| Poggi, F | 1 |
| Beringer, A | 1 |
| Flandin-Blety, C | 1 |
| Niaudet, P | 1 |
| Hubert, P | 1 |
| Morsy, MA | 1 |
| Caskey, CT | 1 |
| Vasudevan, S | 1 |
| Qureshi, IA | 2 |
| Lambert, M | 1 |
| Rao, PM | 1 |
| Rajalakshmi, S | 1 |
| Sarma, DS | 1 |
| Treem, WR | 1 |
| Bueno, JD | 1 |
| Lutz, R | 1 |
| Cho, S | 1 |
| Heringlake, S | 1 |
| Böker, K | 1 |
| Manns, M | 1 |
| Zamora, SA | 1 |
| Pinto, A | 1 |
| Scott, RB | 1 |
| Parsons, HG | 1 |
| Stanley, CA | 1 |
| Lieu, YK | 1 |
| Hsu, BY | 1 |
| Burlina, AB | 2 |
| 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 |
| Schwab, S | 1 |
| Schwarz, S | 1 |
| Mayatepek, E | 1 |
| Hoffmann, GF | 1 |
| Praphanphoj, V | 1 |
| Boyadjiev, SA | 1 |
| Waber, LJ | 1 |
| Geraghty, MT | 1 |
| Yu, H | 1 |
| Beaudet, AL | 1 |
| Reeds, P | 1 |
| Packman, W | 1 |
| Palmer, T | 1 |
| Sidiropoulos, D | 1 |
| Snyderman, SE | 1 |
| Valle, DL | 1 |
| Batshaw, M | 1 |
| Shambaugh, GE | 1 |
| Aleck, KA | 1 |
| Shapiro, LJ | 1 |
| Raijman, L | 1 |
| Aicardi, J | 1 |
| Diebler, C | 1 |
| Omenn, GS | 1 |
| Landay, SE | 1 |
| Reichle, FA | 1 |
| Rao, NS | 1 |
| Reichle, RM | 1 |
| Chang, KH | 1 |
| Terheggen, HG | 1 |
| Lowenthal, A | 1 |
| Lavinha, F | 1 |
| Burns, SP | 1 |
| Woolf, DA | 1 |
| Iles, RA | 1 |
| Ferrari, V | 1 |
| Dionisi-Vici, C | 1 |
| Bordugo, A | 1 |
| Zacchello, F | 1 |
| Tuchman, M | 2 |
| Dixon, MA | 1 |
| Marescau, B | 1 |
| De Deyn, PP | 1 |
| De Broe, ME | 1 |
| Antonozzi, I | 1 |
| Cerone, R | 1 |
| Chamoles, N | 1 |
| Gatti, R | 1 |
| Kang, SS | 1 |
| Nagata, N | 2 |
| Oyanagi, K | 2 |
| Tada, K | 1 |
| Narisawa, K | 1 |
| Kitagawa, T | 1 |
| Sakiyama, T | 1 |
| Yamashita, F | 1 |
| Yoshino, M | 1 |
| Tokatli, A | 1 |
| Coşkun, T | 1 |
| Ozalp, I | 1 |
| Parvy, P | 1 |
| Bardet, J | 1 |
| Elliott, WH | 1 |
| Hammond, JW | 1 |
| Potter, M | 1 |
| Truscott, R | 1 |
| Knopman, DS | 1 |
| Shih, VE | 1 |
| Levy, HL | 1 |
| Hjelm, M | 1 |
| de Silva, LV | 1 |
| Seakins, JW | 1 |
| Rolles, CJ | 1 |
| Portolés, M | 1 |
| Carafoli, E | 1 |
| Schrämmli, A | 1 |
| Zimmermann, A | 1 |
| Schubiger, G | 1 |
| Thaler, MM | 1 |
| Hoogenraad, NJ | 1 |
| Boswell, M | 1 |
| Sinclair, L | 1 |
| Shapira, E | 1 |
| Ben-Yoseph, Y | 1 |
| Aebi, H | 1 |
| Torsvik, H | 1 |
| Hsia, YE | 1 |
| Nakashima, K | 1 |
| Lato, M | 1 |
| Rufini, S | 1 |
| Ghebregziabhier, M | 1 |
| Trovarelli, GF | 1 |
| Mezzetti, T | 1 |
| Arashima, S | 2 |
| Cathelineau, L | 2 |
| Polonovski, C | 1 |
| Salle, B | 1 |
| Longin, B | 1 |
| Richard, P | 1 |
| Andre, M | 1 |
| Gauthier, J | 1 |
| Kang, ES | 1 |
| Snodgrass, PJ | 2 |
| Gerald, PS | 1 |
| Odievre, M | 1 |
| Charpentier, C | 1 |
| Vedrenne, J | 1 |
| Delacoux des Roseaux, F | 1 |
| Mercie, C | 1 |
| Gelehrter, TD | 1 |
| Kolawole, TM | 1 |
| Bohrer, SP | 1 |
| Plöchl, E | 1 |
| Lo, SS | 1 |
| Hitzig, WH | 1 |
| Marti, HR | 1 |
| O'Reilly, S | 1 |
| Arashima, I | 1 |
| Scott-Emuakpor, A | 1 |
| Higgins, JV | 1 |
| Kohrman, AF | 1 |
| Abdul-Karim, RW | 1 |
| Beydoun, SN | 1 |
| MacLeod, P | 1 |
| Mackenzie, S | 1 |
| Scriver, CR | 1 |
| Nambu, H | 1 |
| Takekoshi, Y | 1 |
| Anakura, M | 1 |
| Corbeel, LM | 1 |
| Van Sande, M | 1 |
| Weber, A | 1 |
| Carton, D | 1 |
| De Schrijver, F | 1 |
| Kint, J | 1 |
| Van Durme, J | 1 |
| Hooft, C | 1 |
| Jellum, E | 1 |
| Kluge, T | 1 |
| Börresen, HC | 1 |
| Stokke, O | 1 |
| Eldjarn, L | 1 |
| Nagayama, E | 1 |
| Kitayama, T | 1 |
| Oguchi, H | 1 |
| Ogata, K | 1 |
| Tamura, E | 1 |
| Malmquist, J | 1 |
| Jagenburg, R | 1 |
| Lindstedt, G | 1 |
| Berger, R | 1 |
| Broyer, M | 1 |
| Hopkins, IJ | 1 |
| Connelly, JF | 1 |
| Hocking, B | 1 |
| Maddison, TG | 1 |
| Ziegler, K | 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 | |||
| 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 |
38 reviews available for urea and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Neurologic damage and neurocognitive dysfunction in urea cycle disorders.
Topics: Brain Edema; Carbamoyl-Phosphate Synthase I Deficiency Disease; Cognition Disorders; Glutamine; Huma | 2008 |
[Rationale for the use of sodium benzoate in clinical hepatology].
Topics: Acetates; Adult; Animals; Child; Clinical Trials as Topic; Drug Evaluation, Preclinical; Glycine; He | 1990 |
Adult nonhepatic hyperammonemia: a case report and differential diagnosis.
Topics: Ammonia; Diagnosis, Differential; Humans; Hyperammonemia; Liver Diseases; Male; Metabolism, Inborn E | 2010 |
Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism.
Topics: Cell- and Tissue-Based Therapy; Diet Therapy; Genetic Therapy; Hepatocytes; Humans; Metabolism, Inbo | 2002 |
The role of liver transplantation in urea cycle disorders.
Topics: Age Factors; Humans; Liver Transplantation; Metabolism, Inborn Errors; Urea | 2004 |
Problems in the management of urea cycle disorders.
Topics: Adult; Ammonia; Female; Humans; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Defi | 2004 |
Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood.
Topics: Child; Humans; Metabolic Diseases; Metabolism, Inborn Errors; Prognosis; Quaternary Ammonium Compoun | 2004 |
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.
Topics: Animals; Arginine; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase I Deficiency Disease; Enz | 2004 |
Urea cycle defects: management and outcome.
Topics: Adolescent; Adult; Aging; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Metabolism, Inbo | 2005 |
Contrasting features of urea cycle disorders in human patients and knockout mouse models.
Topics: Amino-Acid N-Acetyltransferase; Animals; Arginase; Argininosuccinate Lyase; Argininosuccinate Syntha | 2008 |
Hyperammonemia in the ICU.
Topics: Acute Disease; Algorithms; Ammonia; Astrocytes; Brain; Brain Edema; Cerebral Hemorrhage; Critical Ca | 2007 |
[Urea cycle disorders in adult patients].
Topics: Adult; Animals; Child; Humans; Hyperammonemia; Metabolism, Inborn Errors; Urea | 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 |
Understanding inherited metabolic disease.
Topics: Amniocentesis; Carboxy-Lyases; Female; Genetic Carrier Screening; Homocystinuria; Humans; Infant, Ne | 1980 |
Metabolic acidosis in the newborn period.
Topics: Acidosis; Acute Kidney Injury; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn | 1983 |
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
Topics: Argininosuccinic Acid; Humans; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Deficiency | 1995 |
Ornithine transcarbamylase deficiency: a model for gene therapy.
Topics: Animals; Genetic Therapy; Humans; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Ornithi | 1994 |
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 |
Early recognition of metabolic decompensation.
Topics: Biomarkers; Brain Diseases, Metabolic; Child; Fatty Acids; Glycogen Storage Disease Type I; Humans; | 1997 |
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 |
[Diagnosis of fetal diseases by examination of the amniotic fluid (author's transl)].
Topics: alpha-Fetoproteins; Amniotic Fluid; Amylases; Blood Group Incompatibility; Central Nervous System; C | 1975 |
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
Urea biosynthesis II. Normal and abnormal regulation.
Topics: Adrenal Cortex Hormones; Adrenal Glands; Ammonia; Animals; Argininosuccinate Synthase; Argininosucci | 1978 |
Genetic-metabolic considerations in the sick neonate.
Topics: Amino Acids; Carbohydrate Metabolism; Diagnosis, Differential; Electrolytes; Endocrine System Diseas | 1978 |
[Reye's syndrome].
Topics: Ammonia; Fatty Liver; Humans; Hypoglycemia; Liver; Metabolism, Inborn Errors; Mitochondria, Liver; R | 1976 |
Inborn errors of metabolism: clues to understanding human behavioral disorders.
Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heter | 1976 |
Intercurrent illness in inborn errors of intermediary metabolism.
Topics: Acidosis; Child; Child, Preschool; Emergencies; Fatty Acids; Health Education; Humans; Infant; Infan | 1992 |
Role of recombinant DNA in inborn errors of the urea cycle. Short review.
Topics: DNA, Recombinant; Genetic Engineering; Humans; Metabolism, Inborn Errors; Urea | 1991 |
Nutritional therapy for selected inborn errors of metabolism.
Topics: Glycogen Storage Disease Type I; Humans; Metabolism, Inborn Errors; Microbodies; Multiple Carboxylas | 1989 |
Mitochondrial pathology: an overview.
Topics: Adenosine Triphosphate; Animals; Autoantibodies; Calcium; Humans; Metabolism, Inborn Errors; Mitocho | 1986 |
Inborn defects of the mitochondrial portion of the urea cycle.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Animals; Biological Transport, Active; Carbamoyl | 1986 |
Inherited hyperammonemic syndromes.
Topics: Acidosis; Amino Acids; Ammonia; Animals; Arginine; Brain; Brain Diseases; Chemical and Drug Induced | 1974 |
[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 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 |
2 trials available for urea and Metabolism, Inborn Errors
| 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 |
Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect.
Topics: Amino Acids; Blood Proteins; Body Height; Child, Preschool; Dietary Proteins; Energy Intake; Female; | 2005 |
93 other studies available for urea and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Acute hemodialysis therapy in neonates with inborn errors of metabolism.
Topics: Ammonia; Child; Humans; Infant, Newborn; Leucine; Metabolism, Inborn Errors; Renal Dialysis; Retrosp | 2022 |
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Female; Humans; Male; Mass Spectrometry; Met | 2019 |
The interplay between protein stability and dynamics in conformational diseases: the case of hPGK1 deficiency.
Topics: Amino Acid Substitution; Enzyme Stability; Genetic Diseases, X-Linked; Humans; Metabolism, Inborn Er | 2013 |
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.
Topics: Adolescent; Amino-Acid N-Acetyltransferase; Child; Child, Preschool; Clinical Trials as Topic; Europ | 2008 |
[A newborn infant with hyperventilation].
Topics: Alkalosis, Respiratory; Diagnosis, Differential; Fatal Outcome; Humans; Hyperammonemia; Infant, Newb | 2008 |
[Metabolic inborn error with acute debut in newborns].
Topics: Diagnosis, Differential; Emergencies; Humans; Hyperammonemia; Infant, Newborn; Metabolism, Inborn Er | 2008 |
An 18-year-old woman with hyperammonemia.
Topics: Adolescent; Brain Diseases, Metabolic; Fatal Outcome; Female; Humans; Hyperammonemia; Metabolism, In | 2009 |
Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders.
Topics: Adolescent; Affective Symptoms; Analysis of Variance; Child; Child, Preschool; Developmental Disabil | 2009 |
One-step metabolomics: carbohydrates, organic and amino acids quantified in a single procedure.
Topics: Amino Acids; Carbohydrates; Humans; Infant; Mass Screening; Metabolism, Inborn Errors; Metabolomics; | 2010 |
Hyperammonemia in the pediatric emergency care setting.
Topics: Ammonia; Brain Damage, Chronic; Child; Child, Preschool; Consciousness Disorders; Critical Illness; | 2010 |
Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency.
Topics: Adenosine Diphosphate; Adenosine Triphosphate; Calorimetry, Differential Scanning; Enzyme Stability; | 2013 |
Urea cycle disorders in Thai infants: a report of 5 cases.
Topics: Argininosuccinate Synthase; Brain Diseases, Metabolic; Child Development; Fatal Outcome; Female; Hum | 2002 |
Quantitative Petri net model of gene regulated metabolic networks in the cell.
Topics: Algorithms; Cell Cycle; Computer Simulation; Gene Expression Regulation; Humans; Metabolism; Metabol | 2003 |
[VITAMIN D INTOXICATION AND "IDIOPATHIC HYPERCALCEMIA"].
Topics: Blood Urea Nitrogen; Cholestanes; Diagnosis, Differential; Drug Hypersensitivity; Humans; Hypercalce | 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 |
[Inherited urea cycle disorders in Finland].
Topics: Age Distribution; Child; Child, Preschool; Female; Finland; Humans; Incidence; Male; Metabolism, Inb | 2004 |
New developments in urea cycle disorders. Proceedings of a satellite workshop at the IX International Congress on Inborn Errors of Metabolism. August 31-September 1, 2003. Sydney, Australia.
Topics: Animals; Humans; Metabolism, Inborn Errors; Urea | 2004 |
Genetic approach to prenatal diagnosis in urea cycle defects.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Argininosuccinate Synthase; Argininosuccinic Aci | 2004 |
Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl.
Topics: Autistic Disorder; Child, Preschool; Female; Humans; Metabolism, Inborn Errors; Urea | 2005 |
Study of inherited metabolic disorders in Singapore - 13 years experience.
Topics: Adolescent; Adult; Amino Acids; Biomarkers; Carbohydrates; Child; Child, Preschool; Chromatography, | 2006 |
Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder.
Topics: Adrenergic beta-Antagonists; Cesarean Section; Glucose; Humans; Hyperammonemia; Infant, Newborn; Ins | 2008 |
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 |
Fatal initial adult-onset presentation of urea cycle defect.
Topics: Adult; Brain Edema; DNA; Fatal Outcome; Female; Heterozygote; Humans; Hyperammonemia; Infant, Newbor | 2007 |
Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy.
Topics: Diagnosis, Differential; Glucocorticoids; Hepatic Encephalopathy; Humans; Hyperammonemia; Male; Meta | 2008 |
Acatalasemic and hypocathalasemic mouse mutants. II. Mutational variations in blood and solid tissue catalases.
Topics: Animals; Azides; Brain; Catalase; Formamides; Guanidines; Hot Temperature; Hydrogen-Ion Concentratio | 1967 |
Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.
Topics: Acidosis; Alkalies; Brain; Creatinine; Female; Humans; Hydrogen-Ion Concentration; Infant, Newborn; | 1967 |
Treatment of congenital hyperammonemias.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Humans; Metabolism, Inborn Erro | 1984 |
[Neonatal hyperammonemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Carbamoyl-Phosphate Syntha | 1983 |
Evidence of lack of toxicity of sodium phenylacetate and sodium benzoate in treating urea cycle enzymopathies.
Topics: Benzoates; Benzoic Acid; Child, Preschool; Female; Humans; Male; Metabolism, Inborn Errors; Phenylac | 1981 |
The treatment of inborn errors of the urea cycle.
Topics: Ammonia; Arginine; Humans; Metabolism, Inborn Errors; Ornithine; Urea | 1981 |
Treating urea cycle defects.
Topics: Humans; Metabolism, Inborn Errors; 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 |
Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.
Topics: Acids; Adrenal Insufficiency; Amino Acids; Blotting, Southern; Citric Acid Cycle; Corneal Opacity; D | 1993 |
Liver transplantation in children with inherited metabolic disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Child; Child, Preschool; Follow-U | 1995 |
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria.
Topics: Adenine Nucleotides; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Liver; Metabolism, Inborn Error | 1995 |
Ornithine transcarbamylase deficiency: case report and review.
Topics: Ammonia; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase De | 1995 |
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 |
Mitochondrial abnormalities of liver in two children with citrullinaemia.
Topics: Cell Nucleus; Child; Child, Preschool; Citrulline; Humans; Liver; Male; Metabolism, Inborn Errors; M | 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 |
Recurrent brain edema in ornithine-transcarbamylase deficiency.
Topics: Age of Onset; Brain Edema; Female; Humans; Metabolism, Inborn Errors; Middle Aged; Ornithine Carbamo | 1999 |
Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia.
Topics: Child; Child, Preschool; Drug Overdose; Fatal Outcome; Female; Humans; Injections, Intravenous; Male | 2000 |
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 |
Diagnosis of urea cycle disorders.
Topics: Amino Acids; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Hy | 1977 |
New pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Citrulline; Dietary Proteins; Hippu | 1979 |
Double deficiencies of urea cycle enzymes in human liver.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1979 |
Varicella hepatitis and Reye's syndrome: an interrelationship?
Topics: Chickenpox; Child; Child, Preschool; Female; Hepatitis; Humans; Metabolism, Inborn Errors; Reye Synd | 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 |
Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy.
Topics: Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduri | 1992 |
Allopurinol challenge test in children.
Topics: Adolescent; Aging; Allopurinol; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Male; M | 1992 |
The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid.
Topics: Adult; Aged; Aged, 80 and over; Arginine; Female; Guanidines; Humans; Kidney Diseases; Male; Metabol | 1992 |
Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies.
Topics: Brain; Child, Preschool; Electroencephalography; Enzymes; Humans; Infant; Infant, Newborn; Intellige | 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 |
[Hyperlysinemia and hyperammonemia].
Topics: Ammonia; Female; Humans; Infant, Newborn; Lysine; Male; Metabolism, Inborn Errors; Retrospective Stu | 1991 |
Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion.
Topics: Adolescent; Child; Child, Preschool; Female; Glutamine; Humans; Infant; Male; Metabolism, Inborn Err | 1991 |
Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease.
Topics: Amino Acids; Amniotic Fluid; Autoanalysis; Carbohydrates; Chromatography, Gas; Creatinine; Female; H | 1991 |
Estimated frequency of urea cycle enzymopathies in Japan.
Topics: Enzymes; Female; Humans; Infant, Newborn; Japan; Male; Metabolism, Inborn Errors; Urea | 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 |
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 |
High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man.
Topics: Arginine; Argininosuccinic Acid; Chromatography, High Pressure Liquid; Humans; Indicators and Reagen | 1986 |
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 |
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 |
Nature of residual erythrocyte catalase activity in Swiss-type acatalasemia.
Topics: Animals; Catalase; Electrophoresis, Starch Gel; Erythrocytes; Homozygote; Hot Temperature; Humans; I | 1974 |
Studies on the protein moiety of serum high density lipoprotein from patients with familial lecithin: cholesterol acyltransferase deficiency.
Topics: Acyltransferases; Amino Acids; Apoproteins; Centrifugation, Density Gradient; Cholesterol; Chromatog | 1972 |
Further evidence of molecular alteration and aberration of erythrocyte pyruvate kinase.
Topics: Anemia, Aplastic; Anemia, Hemolytic, Autoimmune; Animals; Centrifugation; Electrophoresis, Polyacryl | 1974 |
[Thin layer chromatography in infant feeding].
Topics: Animals; Carbohydrates; Chromatography, Thin Layer; Food Analysis; Humans; Infant; Infant Food; Infa | 1974 |
A case of carbamyl phosphate synthetase deficiency.
Topics: Amino Acids; Carbamates; DNA; Female; Glucose Tolerance Test; Humans; Infant; Liver; Metabolism, Inb | 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 |
[Constitutional hyperammonemia with carbamoylphosphate synthetase deficiency. Course treatment during dietetic].
Topics: Amino Acids; Ammonia; Biopsy; Chromatography; Dietary Proteins; Humans; Infant; Liver; Liver Functio | 1973 |
Lethal neonatal deficiency of carbamyl phosphate synthetase.
Topics: Amino Acids; Ammonia; Carbamates; Cells, Cultured; Chromatography; Cytoplasm; Fibroblasts; Glutamate | 1974 |
Tumoral calcinosis with "fluid levels" in the tumoral masses.
Topics: Alkaline Phosphatase; Body Fluids; Calcinosis; Calcium; Child; Cysts; Humans; Male; Metabolism, Inbo | 1974 |
Hereditary methemoglobinemia due to diaphorase deficiency. Report of a case of heterozygote presenting with cyanosis after birth.
Topics: Alkaline Phosphatase; Blood Glucose; Calcium; Creatinine; Cyanosis; Dihydrolipoamide Dehydrogenase; | 1970 |
Acatalasemia in the mouse and other species.
Topics: Animals; Antigen-Antibody Reactions; Azides; Catalase; Cattle; Chickens; Erythrocytes; Heterozygote; | 1970 |
Neurologic disorders and liver disease.
Topics: Adipose Tissue; Ammonia; Brain Diseases; Citrulline; Fatty Liver; Galactosemias; Hepatic Encephalopa | 1971 |
[Hyperammonemia--congenital abnormality of the urea cycle].
Topics: Amino Acids; Ammonia; Animals; Arginase; Carbamates; DNA; Female; Humans; Infant; Kinetics; Ligases; | 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 |
Amniotic fluid: the value of prenatal analysis. 1.
Topics: Acid-Base Equilibrium; Albumins; Amino Acids; Amniocentesis; Amniotic Fluid; Carbon Dioxide; Creatin | 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 |
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 |
Argininosuccinic aciduria. Neonatal variant with rapid fatal course.
Topics: Arginase; Arginine; Blood Urea Nitrogen; Brain Chemistry; Chromatography, Paper; Citrulline; Female; | 1969 |
Pyroglutamic aciduria--a new inborn error of metabolism.
Topics: Acidosis; Adult; Amino Acids; Brain Damage, Chronic; Chromatography, Gas; Chromatography, Ion Exchan | 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 |
[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 |
The hyper-ammonemia and its treatment.
Topics: Ammonia; Humans; Metabolism, Inborn Errors; Urea | 1969 |