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Quoted phrase not found in phrase index: "Congenital hyperammonemia, type I"
Page 1
Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Zhang S, Hu Y, Wu Z, Zhou X, Wu T, Li P, Lian Q, Xu S, Gu J, Chen L, Wu G, Zhang T, Tang J, Xue J. Zhang S, et al. Int J Radiat Oncol Biol Phys. 2023 Apr 1;115(5):1244-1256. doi: 10.1016/j.ijrobp.2022.11.022. Epub 2022 Nov 22. Int J Radiat Oncol Biol Phys. 2023. PMID: 36423742
RESULTS: We found that urea cycle key enzyme CPS1 was frequently lower in human HCC samples and positively associated with the patient's prognosis. Functionally, the present study proved that CPS1 depletion could accelerate the development of HCC and induce radiation resis …
RESULTS: We found that urea cycle key enzyme CPS1 was frequently lower in human HCC samples and positively associated with the patient's …
Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.
Wang S, Chen J, Zhu X, Huang T, Xu H, Ying G, Qian H, Lin W, Tung Y, Khan KU, Guo H, Zheng G, Lu H, Zhang G. Wang S, et al. BMC Med Genomics. 2023 Jun 26;16(1):145. doi: 10.1186/s12920-023-01569-w. BMC Med Genomics. 2023. PMID: 37365635 Free PMC article. Review.
CONCLUSION: A comprehensive description of the clinical and genetic features of this patient, who has a rare age of onset and a relatively atypical clinical presentation, will facilitate the early diagnosis and management of this type of late onset CPS1D and reduce misdiagnosis, …
CONCLUSION: A comprehensive description of the clinical and genetic features of this patient, who has a rare age of onset and a relatively a …
Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.
Zhang Z, Tong F, Chen C, Zhang T, Qian G, Yang X, Huang X, Yang R, Zhao Z. Zhang Z, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Nov 14;52(6):721-726. doi: 10.3724/zdxbyxb-2023-0359. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 37986659 Free PMC article. Chinese, English.
Early diagnosis through newborn screening and following standardized treatment can significantly improve the prognosis of the patients. OBJECTIVE: To investigate genotype-phenotype characteristics and long-term prognosis of neonatal carbamoyl phosphate synthetase 1 …
Early diagnosis through newborn screening and following standardized treatment can significantly improve the prognosis of the patient …
Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.
Choi Y, Oh A, Lee Y, Kim GH, Choi JH, Yoo HW, Lee BH. Choi Y, et al. Clin Chim Acta. 2022 Feb 1;526:55-61. doi: 10.1016/j.cca.2021.11.029. Epub 2021 Dec 29. Clin Chim Acta. 2022. PMID: 34973183
The severity of hyperammonemic encephalopathy determines the clinical course of UCDs. Here, we describe the genetic and clinical characteristics of CPS1 deficiency in Korea. ...
The severity of hyperammonemic encephalopathy determines the clinical course of UCDs. Here, we describe the genetic and clinical char …
Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.
Yang X, Shi J, Lei H, Xia B, Mu D. Yang X, et al. Medicine (Baltimore). 2017 Jun;96(26):e7365. doi: 10.1097/MD.0000000000007365. Medicine (Baltimore). 2017. PMID: 28658158 Free PMC article.
Once hyperammonemia is confirmed, blood and urea amino acid analysis in combination with genetic examinations should be performed as early as possible, this approach would help establish diagnoses at an early stage and thus contribute to reducing mortality and improving progno …
Once hyperammonemia is confirmed, blood and urea amino acid analysis in combination with genetic examinations should be performed as early a …
Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
Zhang G, Chen Y, Ju H, Bei F, Li J, Wang J, Sun J, Bu J. Zhang G, et al. J Clin Lab Anal. 2018 Feb;32(2):e22241. doi: 10.1002/jcla.22241. Epub 2017 Apr 26. J Clin Lab Anal. 2018. PMID: 28444906 Free PMC article.
Candidate mutations were validated by Sanger sequencing. In-silicon analysis was processed for the pathogenicity predictions of the identified mutations. RESULTS: Two compound heterozygous mutations in the gene carbamoyl phosphate synthetase 1(CPS1) were identified. ...Pro …
Candidate mutations were validated by Sanger sequencing. In-silicon analysis was processed for the pathogenicity predictions of the i …
Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
Imataka G, Ishii J, Ando Y, Yoshihara S, Takagi Y, Nitta A, Arisaka O, Yoshihara S. Imataka G, et al. Eur Rev Med Pharmacol Sci. 2020 Oct;24(19):10051-10053. doi: 10.26355/eurrev_202010_23220. Eur Rev Med Pharmacol Sci. 2020. PMID: 33090410 Free article.
CASE REPORT: Following emergent neonatal therapy, the patient was diagnosed with CPS1D based on clinical, radiological, biochemical and genetic analyses. Her clinical course, neurobehavioral development and therapeutic interventions are presented and discussed. ...CONCLUSI …
CASE REPORT: Following emergent neonatal therapy, the patient was diagnosed with CPS1D based on clinical, radiological, biochemical and gene …
Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
Ali EZ, Khalid MK, Yunus ZM, Yakob Y, Chin CB, Abd Latif K, Hock NL. Ali EZ, et al. Eur J Pediatr. 2016 Mar;175(3):339-46. doi: 10.1007/s00431-015-2644-z. Epub 2015 Oct 6. Eur J Pediatr. 2016. PMID: 26440671
Five mutations were missense changes while another three were predicted to create premature stop codons. In silico analyses showed that these new mutations affected different CPS1 enzyme domains and were predicted to interrupt interactions at enzyme active sites, di …
Five mutations were missense changes while another three were predicted to create premature stop codons. In silico analyses showed th …
Urea cycle disorders: a case report of a successful treatment with liver transplant and a literature review.
Foschi FG, Morelli MC, Savini S, Dall'Aglio AC, Lanzi A, Cescon M, Ercolani G, Cucchetti A, Pinna AD, Stefanini GF. Foschi FG, et al. World J Gastroenterol. 2015 Apr 7;21(13):4063-8. doi: 10.3748/wjg.v21.i13.4063. World J Gastroenterol. 2015. PMID: 25852294 Free PMC article. Review.
Our case report and the recent literature data on the quality of life and prognosis of traditionally treated patients vs OLT patients, support OLT as a primary intervention to prevent life-threatening acute episodes and chronic mental impairment....
Our case report and the recent literature data on the quality of life and prognosis of traditionally treated patients vs OLT patients …
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.
Chen X, Yuan L, Sun M, Liu Q, Wu Y. Chen X, et al. J Clin Lab Anal. 2018 Jun;32(5):e22375. doi: 10.1002/jcla.22375. Epub 2018 Jan 4. J Clin Lab Anal. 2018. PMID: 29314318 Free PMC article.
Bioinformatics tools were used for the conservation analysis and pathogenicity predictions of the identified mutations. RESULTS: Increased lactate in urea and decreased citrulline in blood were detected in the patient. Two novel mutations (c.173G>T, p.G58V in exon 2 and …
Bioinformatics tools were used for the conservation analysis and pathogenicity predictions of the identified mutations. RESULTS: Incr …
20 results