[1] 植瑞东, 何夏怡, 赵思婷. 经典型苯丙酮尿症患者的致病基因突变分析[J]. 国际医药卫生导报, 2018, 24(10): 1502. doi: 10.3760/cma.j.issn.1007-1245.2018.10.015
[2] 国家卫生健康委. 《第一批罕见病目录》(一)[J]. 疑难病杂志, 2018, 12(7): 13.
[3] THALHAMMER O, HAVELEC L, KNOLL E, et al. Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine-blood level elevation?[J]. Human Genetics, 2015, 38(3): 2311.
[4] 严庆庆, 汪晓莺, 徐爱萍. 南通地区新生儿高苯丙氨酸血症研究结果分析[J]. 中国优生与遗传杂志, 2019, 21(4): 3211.
[5] 李卓影, 王伟. 新生儿疾病筛查42例苯丙酮尿症患儿治疗依从性与智力发育情况分析[J]. 中国妇幼卫生杂志, 2016, 21(4): 205.
[6] 中华人民共和国卫生部. 苯丙酮尿症和先天性甲状腺功能减低症诊治技术规范[卫妇社发(96)号] [J]. 中国儿童保健杂志, 2011, 22(2): 2541.
[7] JAHJA R, HUIJBREGTS SC, DE SONNEVILLE LM, et al. Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria[J]. J Pediatr, 2014, 164(4): 895. doi: 10.1016/j.jpeds.2013.12.015
[8] WANG B, LIU M, YAN W, et al. Association of SNP s in genes involved in folate metabolism with the risk of congenital heart disease[J]. Matern Fetal Neonata1 Med, 2013, 26(18): 1768. doi: 10.3109/14767058.2013.799648
[9] 王昌敏, 唐承波, 王慧琴, 等. 新疆南疆地区苯丙酮尿症患儿苯丙氨酸羟化酶基因第7, 1l, 12外显子突变研究[J]. 中华妇幼临床医学杂志, 2015, 11(3): 301. doi: 10.3877/cma.j.issn.1673-5250.2015.03.004
[10] 张学红, 杨莉, 陆彪, 等. 苯丙酮尿症患儿苯丙氨酸羟化酶基因突变的研究[J]. 临床儿科杂志, 2016, 34(8): 596. doi: 10.3969/j.issn.1000-3606.2016.08.009
[11] ZAMANFAR D, JALALI H, MAHDAVI MR, et al. Investigation of five common mutations on phenylalanine hydroxylase gene of phenylketonuria patients from two provinces in north of iran[J]. Int J Prevent Med, 2017, 8(1): 2133.
[12] 余伍忠, 仇东辉, 何江. 苯丙酮尿症患儿四种苯丙氨酸羟化酶基因新突变分析[J]. 中华检验医学杂志, 2011, 34(6): 538. doi: 10.3760/cma.j.issn.1009-9158.2011.06.015
[13] VAN SPRONSEN FJ, VANWEGBERGAM, AHRING K, et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria[J]. Lancet Diabetes Endocrinol, 2017, 5(9): 743. doi: 10.1016/S2213-8587(16)30320-5
[14] 朱海燕, 季春燕, 张海荣. 苯丙酮尿症一家系的基因诊断及产前诊断研究[J]. 中华检验医学杂志, 2018, 41(4): 312. doi: 10.3760/cma.j.issn.1009-9158.2018.04.015
[15] ROSS LF, PAUL DB. 50 years ago in the Journal of Pediatrics: variability in the manifestations of phenylketonuria/transient hyperphenylalaninemia[J]. J Pediatr, 2018, 21(21): 1195.
[16] LI H, LI Y, ZHANG L. Characteristics of phenylalanine hydroxylase gene mutations among patients with phenylketonuria from Linyi region of Shandong Province[J]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2017, 34(3): 361.
[17] 庞永红, 褚英, 刘雪楠. 淮海地区汉族苯丙酮尿症患儿苯丙氨酸羟化酶基因突变分析[J]. 中华实用儿科临床杂志, 2018, 33(20): 1545 doi: 10.3760/cma.j.issn.2095-428X.2018.20.006
[18] 王本敬, 程洪波, 戴建荣. 江苏省苏州市苯丙酮尿症患儿苯丙氨酸羟化酶基因突变特点[J/CD]. 中华妇幼临床医学杂志: 电子版, 2015, 11(6): 61.
[19] JAHJA R, HUIJBREGTS SCJ, DE SONNEVILLE LMJ, et al. Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study[J]. Neuropsychology, 2017, 31(4): 3237.
[20] 许静, 赵丽娟, 徐发亮. 血清苯丙氨酸水平对苯丙酮尿症患儿智商的影响[J]. 解放军预防医学杂志, 2019, 23(5): 3321. .
[21] 吴志君. PKU患儿治疗期间血Phe控制浓度与智商关系的研究[J]. 中国优生与遗传杂志, 2016, 19(4): 104.
[22] 张延娜, 梁思颖, 陆薇冰. 青岛地区29万例新生儿苯丙酮尿症筛查结果及患者PAH基因突变研究分析[J]. 中国优生与遗传杂志, 2019, 21(6): 125.