[1] Liu F, Bao L S, Liang R J, et al. Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study. J Cell Mol Med, 2021, 25(8): 4099-4109. [2] Zhou Q, Huang H, Ma L, et al. The application of next-generation sequencing (NGS) in neonatal-onset urea cycle disorders (UCDs): clinical course, metabolomic profiling, and genetic findings in nine chinese hyperammonemia patients. Biomed Res Int, 2020, 2020(5690915. [3] Xu J, Zhang A, Huang F. Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report. Exp Ther Med, 2020, 20(1): 623-629. [4] Fan L, Zhao J, Jiang L, et al. Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency. J Clin Lab Anal, 2020, 34(4): e23124. [5] Yan B, Wang C, Zhang K, et al. Novel neonatal variants of the carbamoyl phosphate synthetase 1 deficiency: two case reports and review of literature. Front Genet, 2019, 10:718. [6] Zhang G, Chen Y, Ju H, et al. Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing. J Clin Lab Anal, 2018, 32(2):8. [7] Chen X, Yuan L, Sun M, et al. Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. J Clin Lab Anal, 2018, 32(5): e22375. [8] Yang X, Shi J, Lei H, et al. Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report. Medicine (Baltimore), 2017, 96(26): e7365. [9] 史红敏, 郭艳丽, 郭敏. 新生儿氨甲酰磷酸合成酶Ⅰ缺乏1例报告及文献回顾. 实用临床医学, 2021, 22(03): 36-37+77. [10] 杨素艳, 孙夫强, 刘芳. 氨甲酰磷酸合成酶1缺乏症1例临床及基因分析. 临床儿科杂志, 2019, 37(12): 902-904+908. [11] 李蕊, 张耀东, 张亚维. 1例新生儿氨甲酰磷酸合成酶1缺乏症的基因突变分析. 国际遗传学杂志, 2019, 42(02): 181-184. [12] 张海燕, 郎玉洁, 张开慧,等. 一例新生儿型氨甲酰磷酸合成酶Ⅰ缺乏症的诊断. 中华医学遗传学杂志, 2018, 35(06): 848-851. [13] 冀晓东, 郭瑜, 夏爽,等. 氨基甲酰磷酸合成酶缺乏症Ⅰ型一例. 中华放射学杂志, 2018, 52(06): 481-482. [14] 黄新文, 张玉, 洪芳,等. 浙江省新生儿氨基酸代谢疾病筛查及随访分析. 浙江大学学报(医学版), 2017, 46(03): 233-239. [15] 雷海虹, 杨晓燕, 石晶,等. 新生儿型氨甲酰磷酸合成酶Ⅰ缺乏症1例报告及文献回顾. 临床儿科杂志, 2016, 34(12): 903-906. [16] 刘克战, 李海, 李慧. 新生儿氨甲酰磷酸合成酶缺乏症1例报告. 山西医科大学学报, 2014, 45(07): 665-666. [17] Haberle J, Shchelochkov O A, Wang J, et al. Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Hum Mutat, 2011, 32(6): 579-589. [18] Sugiyama Y, Shimura M, Ogawa-tominaga M, et al. Therapeutic effect of N-carbamylglutamate in CPS1 deficiency. Mol Genet Metab Rep, 2020, 24(100622. [19] Choi R, Park H D, Yang M, et al. Novel pathogenic variant (c.580C>T) in the CPS1 gene in a newborn with carbamoyl phosphate synthetase 1 deficiency identified by whole exome sequencing. Ann Lab Med, 2017, 37(1): 58-62. [20] Saritas Nakip O, Yildiz Y, Tokatli A. Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations. J Pediatr Endocrinol Metab, 2020, 33(6): 721-728. [21] Vasquez-loarte T, Thompson J D, Merritt J L, 2nd. considering proximal urea cycle disorders in expanded newborn screening. Int J Neonatal Screen, 2020, 6(4):77. [22] Isler J, Rufenacht V, Gemperle C, et al. Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing. JIMD Rep, 2020, 52(1): 28-34. [23] Griffin J W D, Bradshaw P C. Effects of a high protein diet and liver disease in an in silico model of human ammonia metabolism. Theor Biol Med Model, 2019, 16(1): 11. [24] 谢新宝, 王建设. 重视儿童急性肝衰竭的诊治. 临床肝胆病杂志, 2022, 38(02): 257-259. [25] Diez-fernandez C, Haberle J. Targeting CPS1 in the treatment of carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder. Expert Opin Ther Targets, 2017, 21(4): 391-399. |