ammonium hydroxide has been researched along with Citrullinemia in 34 studies
azane : Saturated acyclic nitrogen hydrides having the general formula NnHn+2.
Citrullinemia: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Citrullinemia Type I is an inborn error, which leads to accumulation of citrulline and ammonia in blood and body tissues." | 8.02 | Protective effect of resveratrol on citrullinemia type I-induced brain oxidative damage in male rats. ( Delmonego, L; Delwing-Dal Magro, D; Delwing-de Lima, D; Eger, L; Lima, AB; Maia, TP; Pscheidt, LC; Vincenzi, KL, 2021) |
| "Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, which encodes for the argininosuccinate synthetase enzyme." | 7.85 | Identification of three novel mutations in fourteen patients with citrullinemia type 1. ( Arslan, N; Bulbul, S; Gunduz, M; Häberle, J; Kose, E; Unal, O, 2017) |
| "Citrullinemia type 1 (CTLN1) is an autosomal recessive disorder of metabolism caused by a deficiency of argininosuccinate synthetase." | 7.79 | Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. ( Chandler, RJ; Cusmano-Ozog, K; McGuire, PJ; Sun, Q; Sutton, VR; Tarasenko, TN; Venditti, CP, 2013) |
| "Classical citrullinemia generally involves hyperammonemic coma in the first few days of life and leads to neurological sequelae in survivors." | 7.78 | Successful prospective management of neonatal citrullinemia. ( Go, H; Hashimoto, K; Hosoya, M; Imamura, T; Momoi, N; Ogasawara, K; Sakamoto, O; Takubo, N, 2012) |
| "Citrullinemia type I (CTLN1) is a urea cycle disorder which typically presents in the neonatal period or infancy with hyperammonemia and concurrent neurologic deterioration." | 7.77 | Transient fulminant liver failure as an initial presentation in citrullinemia type I. ( Baruteau, J; de Baulny, HO; Faghfoury, H; Häberle, J; Schulze, A, 2011) |
| "Adult-onset type II citrullinemia is an inborn error of urea cycle metabolism that can lead to hyperammonemic encephalopathy and coma." | 7.74 | Magnetic resonance spectroscopy in adult-onset citrullinemia: elevated glutamine levels in comatose patients. ( Au, WL; Lim, CC; Wong, YC; Xu, M; Ye, J, 2007) |
| "Citrullinemia is an inborn error of the urea cycle caused by deficient argininosuccinate synthetase, which leads to accumulation of L-citrulline and ammonia in tissues and body fluids." | 7.73 | Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro. ( Dutra Filho, CS; Pederzolli, CD; Prestes, CC; Sgaravatti, AM; Sgarbi, MB; Wajner, M; Wannmacher, CM; Wyse, AT; Zorzi, GK, 2006) |
| "We describe a 64-year-old man with 'citrullinemia type II' whose serum citrulline levels fluctuated between normal and abnormally high during episodic manifesting periods." | 7.71 | Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels. ( Kobayashi, K; Maruyama, H; Nishio, T; Ogawa, M; Saheki, T; Sunohara, N, 2001) |
| " Laboratory findings showed high serum levels of ammonia and citrulline, and a diagnosis of adult-onset type II citrullinemia was made." | 7.71 | A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings. ( Iseki, K; Kobayashi, K; Kochinda, T; Komine, Y; Muratani, H; Oshiro, S; Saheki, T; Takishita, S; Tana, T; Yamazato, M, 2002) |
| "We report the results of a 25-year, open-label, uncontrolled study of sodium phenylacetate and sodium benzoate therapy (Ammonul, Ucyclyd Pharma) in 299 patients with urea-cycle disorders in whom there were 1181 episodes of acute hyperammonemia." | 5.12 | Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. ( Berry, GT; Berry, SA; Brusilow, SW; Enns, GM; Hamosh, A; Rhead, WJ, 2007) |
| "We used desflurane and remifentanil for general anesthesia to avoid hyperammonemia and delayed emergence." | 4.12 | Desflurane and remifentanil anesthesia in a child with citrin deficiency: A case report. ( Jung, SM; Kim, K, 2022) |
| "Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder caused by mutations in the gene encoding argininosuccinate synthetase 1 (ASS1) that catalyzes the third step of the urea cycle." | 4.12 | Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice. ( Aldabe, R; Bazo, A; Bénichou, B; Combal, JP; Gonzalez-Aseguinolaza, G; Häberle, J; Lantero, A; Mauleón, I; Neri, L; Poms, M; Ricobaraza, A, 2022) |
| "Citrullinemia Type I is an inborn error, which leads to accumulation of citrulline and ammonia in blood and body tissues." | 4.02 | Protective effect of resveratrol on citrullinemia type I-induced brain oxidative damage in male rats. ( Delmonego, L; Delwing-Dal Magro, D; Delwing-de Lima, D; Eger, L; Lima, AB; Maia, TP; Pscheidt, LC; Vincenzi, KL, 2021) |
| " This report examines links between biochemical markers (ammonia, glutamine, arginine, citrulline) and primary neuropsychological endpoints in three distal disorders, argininosuccinic acid synthetase deficiency (ASD or citrullinemia type I), argininosuccinic acid lyase deficiency (ASA or ALD), and arginase deficiency (ARGD)." | 3.88 | Biochemical markers and neuropsychological functioning in distal urea cycle disorders. ( Burgard, P; Cederbaum, S; Cuthbertson, D; Holbert, A; McCarter, R; Waisbren, SE, 2018) |
| "The underlying pathophysiology of liver dysfunction in urea cycle disorders (UCDs) is still largely elusive." | 3.85 | Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis. ( Garavelli, L; Ivanovski, A; Ivanovski, I; Ivanovski, P; Ješić, M, 2017) |
| "Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, which encodes for the argininosuccinate synthetase enzyme." | 3.85 | Identification of three novel mutations in fourteen patients with citrullinemia type 1. ( Arslan, N; Bulbul, S; Gunduz, M; Häberle, J; Kose, E; Unal, O, 2017) |
| "Citrullinemia type 1 (CTLN1) is an autosomal recessive disorder of metabolism caused by a deficiency of argininosuccinate synthetase." | 3.79 | Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. ( Chandler, RJ; Cusmano-Ozog, K; McGuire, PJ; Sun, Q; Sutton, VR; Tarasenko, TN; Venditti, CP, 2013) |
| "Classical citrullinemia generally involves hyperammonemic coma in the first few days of life and leads to neurological sequelae in survivors." | 3.78 | Successful prospective management of neonatal citrullinemia. ( Go, H; Hashimoto, K; Hosoya, M; Imamura, T; Momoi, N; Ogasawara, K; Sakamoto, O; Takubo, N, 2012) |
| "Citrullinemia type I (CTLN1) is a urea cycle disorder which typically presents in the neonatal period or infancy with hyperammonemia and concurrent neurologic deterioration." | 3.77 | Transient fulminant liver failure as an initial presentation in citrullinemia type I. ( Baruteau, J; de Baulny, HO; Faghfoury, H; Häberle, J; Schulze, A, 2011) |
| "Adult-onset type II citrullinemia is an inborn error of urea cycle metabolism that can lead to hyperammonemic encephalopathy and coma." | 3.74 | Magnetic resonance spectroscopy in adult-onset citrullinemia: elevated glutamine levels in comatose patients. ( Au, WL; Lim, CC; Wong, YC; Xu, M; Ye, J, 2007) |
| "Citrullinemia is an inborn error of the urea cycle caused by deficient argininosuccinate synthetase, which leads to accumulation of L-citrulline and ammonia in tissues and body fluids." | 3.73 | Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro. ( Dutra Filho, CS; Pederzolli, CD; Prestes, CC; Sgaravatti, AM; Sgarbi, MB; Wajner, M; Wannmacher, CM; Wyse, AT; Zorzi, GK, 2006) |
| "We describe a 64-year-old man with 'citrullinemia type II' whose serum citrulline levels fluctuated between normal and abnormally high during episodic manifesting periods." | 3.71 | Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels. ( Kobayashi, K; Maruyama, H; Nishio, T; Ogawa, M; Saheki, T; Sunohara, N, 2001) |
| "Adult onset type II citrullinemia is an inherited disorder of amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity." | 3.71 | Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation. ( Hashikura, Y; Ikeda, S; Ikegami, T; Iwai, M; Kawasaki, S; Kobayashi, K; Saheki, T; Takei, Y; Yazaki, M, 2001) |
| " Laboratory findings showed high serum levels of ammonia and citrulline, and a diagnosis of adult-onset type II citrullinemia was made." | 3.71 | A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings. ( Iseki, K; Kobayashi, K; Kochinda, T; Komine, Y; Muratani, H; Oshiro, S; Saheki, T; Takishita, S; Tana, T; Yamazato, M, 2002) |
| "Pregnancy is an important risk factor for women with CTLN1." | 2.82 | Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review. ( Ding, Y; Dou, X; He, R; Zhang, C; Zhou, Y, 2022) |
| "Citrullinemia Type 1 (also known as classic citrullinemia) is a rare autosomal recessive urea cycle disorder due to reduced activity of argininosuccinate synthetase 1; characterized by hyperammonemia leading to neurological damage." | 1.51 | Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation. ( Bagde, A; Bakshi, R; Janwadkar, A; Mirza, D; Nagral, A; Shirole, N; Vasanth, S; Yewale, V, 2019) |
| " Further study is needed to optimize the intradialytic and interdialytic dosing of substrates." | 1.32 | Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency. ( Brophy, PD; Gardner, JJ; Kershaw, DB; Kudelka, TL; McBryde, KD; Smoyer, WE, 2004) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 15 (44.12) | 29.6817 |
| 2010's | 12 (35.29) | 24.3611 |
| 2020's | 7 (20.59) | 2.80 |
| Authors | Studies |
|---|---|
| Kim, K | 1 |
| Jung, SM | 1 |
| Bazo, A | 2 |
| Lantero, A | 2 |
| Mauleón, I | 2 |
| Neri, L | 2 |
| Poms, M | 2 |
| Häberle, J | 5 |
| Ricobaraza, A | 2 |
| Bénichou, B | 2 |
| Combal, JP | 2 |
| Gonzalez-Aseguinolaza, G | 2 |
| Aldabe, R | 2 |
| Zhou, Y | 1 |
| Dou, X | 1 |
| Zhang, C | 1 |
| He, R | 1 |
| Ding, Y | 1 |
| Arora, S | 1 |
| Srivastava, MVP | 1 |
| Singh, MB | 1 |
| Goyal, V | 1 |
| Gupta, N | 1 |
| Prabhakar, A | 1 |
| Aggarwal, B | 1 |
| Agarwal, A | 1 |
| Vishnu, VY | 1 |
| Nguyen, JM | 1 |
| Kaushal, S | 1 |
| Glinton, KE | 1 |
| Marom, R | 1 |
| Vincenzi, KL | 2 |
| Maia, TP | 2 |
| Delmônego, L | 2 |
| Lima, AB | 2 |
| Pscheidt, LC | 2 |
| Delwing-Dal Magro, D | 2 |
| Delwing-de Lima, D | 2 |
| Eger, L | 1 |
| Ivanovski, I | 1 |
| Ješić, M | 1 |
| Ivanovski, A | 1 |
| Garavelli, L | 1 |
| Ivanovski, P | 1 |
| Waisbren, SE | 1 |
| Cuthbertson, D | 1 |
| Burgard, P | 1 |
| Holbert, A | 1 |
| McCarter, R | 1 |
| Cederbaum, S | 1 |
| Hayasaka, K | 1 |
| Numakura, C | 1 |
| Yamakawa, M | 1 |
| Mitsui, T | 1 |
| Watanabe, H | 1 |
| Haga, H | 1 |
| Yazaki, M | 4 |
| Ohira, H | 1 |
| Ochiai, Y | 1 |
| Tahara, T | 1 |
| Nakahara, T | 1 |
| Yamashiki, N | 1 |
| Nakayama, T | 1 |
| Kon, T | 1 |
| Mitsubuchi, H | 1 |
| Yoshida, H | 1 |
| Janwadkar, A | 1 |
| Shirole, N | 1 |
| Nagral, A | 1 |
| Bakshi, R | 1 |
| Vasanth, S | 1 |
| Bagde, A | 1 |
| Yewale, V | 1 |
| Mirza, D | 1 |
| Saheki, T | 8 |
| Moriyama, M | 3 |
| Kuroda, E | 1 |
| Funahashi, A | 1 |
| Yasuda, I | 1 |
| Setogawa, Y | 1 |
| Gao, Q | 1 |
| Ushikai, M | 1 |
| Furuie, S | 1 |
| Yamamura, KI | 1 |
| Takano, K | 1 |
| Nakamura, Y | 2 |
| Eto, K | 1 |
| Kadowaki, T | 1 |
| Sinasac, DS | 3 |
| Furukawa, T | 1 |
| Horiuchi, M | 3 |
| Tai, YH | 1 |
| Chandler, RJ | 1 |
| Tarasenko, TN | 1 |
| Cusmano-Ozog, K | 1 |
| Sun, Q | 1 |
| Sutton, VR | 1 |
| Venditti, CP | 1 |
| McGuire, PJ | 1 |
| Patel, H | 1 |
| Kim, J | 1 |
| Huncke, TK | 1 |
| Choi, JJ | 1 |
| Kim, HS | 1 |
| Lee, KC | 1 |
| Shin, Y | 1 |
| Jo, YY | 1 |
| Kose, E | 1 |
| Unal, O | 1 |
| Bulbul, S | 1 |
| Gunduz, M | 1 |
| Arslan, N | 1 |
| Faghfoury, H | 1 |
| Baruteau, J | 1 |
| de Baulny, HO | 1 |
| Schulze, A | 1 |
| Go, H | 1 |
| Imamura, T | 1 |
| Hashimoto, K | 1 |
| Ogasawara, K | 1 |
| Sakamoto, O | 1 |
| Takubo, N | 1 |
| Momoi, N | 1 |
| Hosoya, M | 1 |
| Kinoshita, M | 1 |
| Ogawa, S | 1 |
| Fujimi, S | 1 |
| Matsushima, A | 1 |
| Hineno, A | 1 |
| Tazawa, K | 1 |
| Fukushima, K | 1 |
| Kimura, R | 1 |
| Yanagida, M | 1 |
| Matsunaga, H | 1 |
| Ikeda, S | 2 |
| Au, WL | 2 |
| Lim, TC | 1 |
| Seow, DC | 1 |
| Koh, PL | 1 |
| Loh, NK | 1 |
| Lim, MS | 1 |
| Tan, IK | 1 |
| Yee, WC | 1 |
| Jalil, MA | 1 |
| Begum, L | 1 |
| Li, MX | 2 |
| Iijima, M | 2 |
| Robinson, BH | 1 |
| Kobayashi, K | 6 |
| Tsui, LC | 2 |
| McBryde, KD | 1 |
| Kudelka, TL | 1 |
| Kershaw, DB | 1 |
| Brophy, PD | 1 |
| Gardner, JJ | 1 |
| Smoyer, WE | 1 |
| Kannan, Y | 1 |
| Tanaka, M | 1 |
| Prestes, CC | 1 |
| Sgaravatti, AM | 1 |
| Pederzolli, CD | 1 |
| Sgarbi, MB | 1 |
| Zorzi, GK | 1 |
| Wannmacher, CM | 1 |
| Wajner, M | 1 |
| Wyse, AT | 1 |
| Dutra Filho, CS | 1 |
| Enns, GM | 1 |
| Berry, SA | 1 |
| Berry, GT | 1 |
| Rhead, WJ | 1 |
| Brusilow, SW | 1 |
| Hamosh, A | 1 |
| Wong, YC | 1 |
| Xu, M | 1 |
| Ye, J | 1 |
| Lim, CC | 1 |
| Matsumura, R | 1 |
| Ishikawa, F | 1 |
| Nakamuta, M | 1 |
| Kato, M | 1 |
| Iwamoto, H | 1 |
| Enjoji, M | 1 |
| Miyata, Y | 1 |
| Inoguchi, T | 1 |
| Sakai, H | 1 |
| Nawata, H | 1 |
| Maruyama, H | 1 |
| Ogawa, M | 1 |
| Nishio, T | 1 |
| Sunohara, N | 1 |
| Hwu, WL | 1 |
| Hu, YH | 1 |
| Yamaguchi, N | 1 |
| Chou, SP | 1 |
| Wang, JH | 1 |
| Takei, Y | 1 |
| Ikegami, T | 1 |
| Hashikura, Y | 1 |
| Kawasaki, S | 1 |
| Iwai, M | 1 |
| Oshiro, S | 1 |
| Kochinda, T | 1 |
| Tana, T | 1 |
| Yamazato, M | 1 |
| Komine, Y | 1 |
| Muratani, H | 1 |
| Iseki, K | 1 |
| Takishita, S | 1 |
| Wilson, CJ | 1 |
| Lee, PJ | 1 |
| Leonard, JV | 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 Phase 2, Open-Label, Switch-Over, Dose-Escalation Study of the Safety and Tolerability of HPN-100 Compared to Buphenyl® (Sodium Phenylbutyrate) in Patients With Urea Cycle Disorders[NCT00551200] | Phase 2 | 14 participants (Actual) | Interventional | 2007-10-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
(NCT00551200)
Timeframe: during the period on 100% Buphenyl (up to 4 weeks) or HPN-100 (up to 10 weeks)
| Intervention | participants (Number) |
|---|---|
| Buphenyl | 7 |
| HPN-100 | 5 |
(NCT00551200)
Timeframe: during the period subjects on 100% Buphenyl (up to 4 weeks) or HPN-100 (up to 10 weeks)
| Intervention | participants (Number) |
|---|---|
| Buphenyl | 1 |
| HPN-100 | 0 |
(NCT00551200)
Timeframe: End of Study
| Intervention | participants (Number) | |
|---|---|---|
| prefer Buphenyl | prefer HPN-100 | |
| Buphenyl to HPN-100 | 1 | 9 |
measured AUC0-24 (Area under the curve from time 0 (pre-dose) to 24 hours) for each metabolite in plasma. Data were collected at 30 minutes and 1, 2, 4, 5, 6, 8, 10, 12, and 24 hours post-first dose. (NCT00551200)
Timeframe: At steady state (1 week) on each medication (Buphenyl® alone, HPN-100 alone)
| Intervention | μg*h/mL (Mean) | ||
|---|---|---|---|
| AUC0-24 PBA (phenylbutyrate) in plasma | AUC0-24 PAA (phenylacetate) in plasma | AUC0-24 PAGN (phenylacetylglutamine) in plasma | |
| HPN-100 Steady State | 540 | 575 | 1098 |
| NaPBA Steady State | 740 | 596 | 1133 |
Data were collected at pre-first dose and at 30 minutes and 1, 2, 4, 5, 6, 8, 10, 12, and 24 hours post first dose. (NCT00551200)
Timeframe: At steady state (1 week) on each medication (Buphenyl® alone, HPN-100 alone), and at steady state (1 week) after each dose escalation
| Intervention | μmol/L (Mean) | |
|---|---|---|
| in peak | in TNAUC (time-normalized area under the curve) | |
| HPN-100 Steady State | 56.3 | 26.5 |
| NaPBA Steady State | 79.1 | 38.4 |
3 reviews available for ammonium hydroxide and Citrullinemia
| Article | Year |
|---|---|
Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review.
Topics: Adult; Amino Acids; Ammonia; Citrullinemia; Female; Humans; Hyperammonemia; Pregnancy; Pregnant Wome | 2022 |
[Adult-onset type II citrullinemia].
Topics: Adult; Ammonia; Arginine; Brain; Calcium-Binding Proteins; Citrulline; Citrullinemia; Female; Humans | 2003 |
[Disorders of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Citrullinemia; Human | 2000 |
1 trial available for ammonium hydroxide and Citrullinemia
| Article | Year |
|---|---|
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
Topics: Adolescent; Adult; Age Factors; Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamo | 2007 |
30 other studies available for ammonium hydroxide and Citrullinemia
| Article | Year |
|---|---|
Desflurane and remifentanil anesthesia in a child with citrin deficiency: A case report.
Topics: Ammonia; Anesthesia, General; Arginine; Blepharoplasty; Calcium-Binding Proteins; Child, Preschool; | 2022 |
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Citrullinemia; Genetic Therapy; Mice; Nitrogen; Urea | 2022 |
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Citrullinemia; Genetic Therapy; Mice; Nitrogen; Urea | 2022 |
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Citrullinemia; Genetic Therapy; Mice; Nitrogen; Urea | 2022 |
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Citrullinemia; Genetic Therapy; Mice; Nitrogen; Urea | 2022 |
Adult onset type II citrullinemia--a great masquerader.
Topics: Ammonia; Brain Diseases; Citrullinemia; Humans; Hyperammonemia; Liver Transplantation; Magnetic Reso | 2020 |
A Somnolent Neonate With Hypothermia and Posturing.
Topics: Ammonia; Arginine; Citrullinemia; Diagnosis, Differential; Diet, Protein-Restricted; Disorders of Ex | 2020 |
Effects of resveratrol on alterations in cerebrum energy metabolism caused by metabolites accumulated in type I citrullinemia in rats.
Topics: Ammonia; Animals; Cerebellum; Cerebral Cortex; Citrulline; Citrullinemia; Disease Models, Animal; Do | 2021 |
Protective effect of resveratrol on citrullinemia type I-induced brain oxidative damage in male rats.
Topics: Ammonia; Animals; Antioxidants; Brain; Citrulline; Citrullinemia; Dose-Response Relationship, Drug; | 2021 |
Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis.
Topics: Ammonia; Central Nervous System; Citrullinemia; Enterobacter; Fatal Outcome; Hepatocytes; Humans; Hy | 2017 |
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Topics: Adolescent; Adult; Ammonia; Arginine; Argininosuccinic Aciduria; Biomarkers; Child; Child, Preschool | 2018 |
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.
Topics: Aged; Ammonia; Argininosuccinate Synthase; Carbohydrates; Citrullinemia; Dietary Supplements; Fatty | 2018 |
Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation.
Topics: Amino Acids; Ammonia; Argininosuccinate Synthase; Child; Citrullinemia; Exons; Heterozygote; Humans; | 2019 |
Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.
Topics: Amino Acids; Ammonia; Ammonium Chloride; Animals; Aspartic Acid; Citrulline; Citrullinemia; Disease | 2019 |
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Citrulline; Citrullinemia; Dependovirus; Disease Model | 2013 |
General anesthesia in a patient with citrullinemia using Precedex as an adjunct to prevent delayed emergence.
Topics: Adolescent; Adrenergic alpha-2 Receptor Agonists; Ammonia; Anesthesia Recovery Period; Anesthesia, G | 2016 |
Anesthetic experience of an adult male with citrullinemia type II: a case report.
Topics: Ammonia; Anesthesia, Spinal; Brain Diseases; Citrullinemia; Humans; Hyperammonemia; Male; Middle Age | 2016 |
Identification of three novel mutations in fourteen patients with citrullinemia type 1.
Topics: Age of Onset; Ammonia; Argininosuccinate Synthase; Child; Child, Preschool; Citrulline; Citrullinemi | 2017 |
Transient fulminant liver failure as an initial presentation in citrullinemia type I.
Topics: Ammonia; Argininosuccinate Synthase; Base Sequence; Citrulline; Citrullinemia; Fatty Liver; Female; | 2011 |
Successful prospective management of neonatal citrullinemia.
Topics: Adult; Ammonia; Anti-Infective Agents; Argininosuccinate Synthase; Base Sequence; Benzoates; Citrull | 2012 |
A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine.
Topics: Aged; Ammonia; Arginine; Blood Chemical Analysis; Citrullinemia; Consciousness Disorders; Female; Hu | 2013 |
Serial diffusion-weighted magnetic resonance imaging in adult-onset citrullinaemia.
Topics: Adult; Ammonia; Argininosuccinic Acid; Brain; Citrulline; Citrullinemia; Coma; Diagnosis, Differenti | 2003 |
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
Topics: Amino Acids; Ammonia; Animals; Argininosuccinate Synthase; Aspartic Acid; Base Sequence; Citrullinem | 2004 |
Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency.
Topics: Amino Acids; Ammonia; Citrullinemia; Humans; Infant, Newborn; Male; Renal Dialysis | 2004 |
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice.
Topics: Amino Acids; Ammonia; Animals; Anticoagulants; Aspartic Acid; Calcium-Binding Proteins; Citric Acid; | 2006 |
Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro.
Topics: Ammonia; Animals; Antioxidants; Catalase; Cerebral Cortex; Citrulline; Citrullinemia; Enzyme Activat | 2006 |
Magnetic resonance spectroscopy in adult-onset citrullinemia: elevated glutamine levels in comatose patients.
Topics: Adult; Ammonia; Biomarkers; Brain; Brain Mapping; Cerebral Cortex; Choline; Citrulline; Citrullinemi | 2007 |
Reversibility of serum NH3 level in a case of sudden onset and rapidly progressive case of type 2 citrullinemia.
Topics: Ammonia; Citrullinemia; Disease Progression; Humans; Male; Middle Aged; Time Factors | 2000 |
Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels.
Topics: Ammonia; Biomarkers; Brain; Cerebrovascular Circulation; Citrulline; Citrullinemia; Humans; Magnetic | 2001 |
A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.
Topics: Adult; Age of Onset; Ammonia; Calcium-Binding Proteins; China; Citrulline; Citrullinemia; DNA Mutati | 2001 |
Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation.
Topics: Adolescent; Adult; Ammonia; Brain; Brain Edema; Citrulline; Citrullinemia; Cognition Disorders; Coma | 2001 |
A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings.
Topics: Adult; Ammonia; Brain; Citrulline; Citrullinemia; Diagnosis, Differential; Female; Humans; Magnetic | 2002 |
Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.
Topics: Adolescent; Adult; Ammonia; Child; Child, Preschool; Citrullinemia; Glutamine; Humans; Ornithine Car | 2001 |