1 中华医学会儿科学分会内分泌遗传代谢学组、中华预防医学会儿童保健分会新生儿疾病筛查学组.先天性甲状腺功能低下症诊疗共识.中华儿科杂志,2011,49:421-424. 2 中华医学会儿科学分会内分泌遗传代谢学组、中华预防医学会出生缺陷预防与控制专业委员会新生儿筛查学组.高苯丙氨酸血症的诊治共识.中华儿科杂志,2014,52:420-425. 3 李立明,流行病学,第6版,人民卫生出版社.2008:15. 4 Singh RH,Cunningham AC,Mofidi S,et al.Updated,web-based nutrition management guideline for PKU:An evidence and consensus based approach.Mol Genet Metab.2016,118:72-83. 5 Van Vliet G,Deladoëy J.Diagnosis,treatment and outcome of congenital hypothyroidism.Endocr Dev. 2014,26:50-59. 6 Ones JH,Donaldson MD.Audit of initial management of congenital hypothyroidism in the United Kingdom-comparison of UK practice with European and UK guidelines.J Pediatr Endocrinol Metab.2009,22:1017-1025. 7 孙殿荣,候梅,郭洪磊.婴幼儿脑瘫治疗前后Gesell发育量表的评估结果及分析.中国儿童保健杂志,2015,23:67-69. 8 顾学范,王治国.中国580万新生儿苯丙酮尿症和先天性甲状腺功能减低症的筛查.中华预防医学杂志,2004,38:99-102. 9 Matulat P,Fabian S,Khn A,et al.Quality of universal newborn hearing screening results:Multicenter analysis of data recorded between 2009 and 2012 in four German states.HNO. 2014,62:171-179. 10 新疆维吾尔自治区统计局.2016 年新疆统计年鉴.2016,3-7各地、州、市、县(市)分民族人口数. 11 关玉伟,秦静.长春市 13 万例新生儿代谢性疾病筛查结果分析.中国妇幼保健,2010,25:2510-2511.