(1)PAH突变分析联盟数据库(PAH Mutation Analysis Consortium Database；由26个国家的81名研究人员提供)：

http：//www.pahdb.mcgill.ca

(2)National PKU Alliance：

http：//npkua.org/

(3)Children’s PKU Network：

http：//www.pkunetwork.org/

(4)Genetics Home Reference: Phenylketonuria：

http：//ghr.nlm.nih.gov/condition/phenylketonuria

(5)MayoClinic.com: Phenylketonuria：

http：//www.mayoclinic.com/health/phenylketonuria/DS00514

(6)Medical Home Portal: Phenylketonuria (PKU) and Pterin defects：

http：//www.medicalhomeportal.org/diagnoses-and-conditions/phenylketonuria-and-pterin-defects/description

(7)GeneReviews中文版：

https：//genereviews.nrdrs.org.cn/paper/paper？code＝734fbc0bfaf4478d3576ee61e2e8e1d4

(8)Mitchell JJ, Scriver CR. (Updated 4 May 2010). Phenylalanine Hydroxylase Deficiency. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2013. Available at http：//www.ncbi.nlm.nih.gov/books/NBK1504/. Accessed [01/18/2013]．

(9)National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and Management. October 16-18, 2000. Pediatrics, 2001, 108(4): 972-982.

(10)van Sprongsen FJ. "Phenylketonuria: a 21st century perspective." Nature Reviews Endocrinology, 2010, 6(9): 509-514.

参与本指南撰写的专家名单：黄尚志(北京协和医学院、世界卫生组织遗传病社区控制合作中心)；宋昉(首都儿科研究所遗传研究室)

参与本指南审定的专家名单：徐湘民(南方医科大学基础医学院医学遗传学教研室)；沈明(中日友好医院儿科)