1. 王晓斌 美国 Johns Hopkins University 2018美国医学院院士 Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in..
2. 曾溢滔 中国 上海交通大学医学院 中国工程院院士 phenylketonuria in china - identification and characterization of 3 novel nucleotide substitutions i..
3. 金力 中国 复旦大学 教授 中国科学院院士 multiple origins for phenylketonuria in europe
4. 曾溢滔 中国 上海交通大学医学院 中国工程院院士 identification of 3 novel missense pku mutations among chinese
5. Hoffmann, Georg F. 德国 Heidelberg University Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabo..
6. Blau, Nenad 瑞士 Kinderspital Zürich Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabo..
7. Maurizio,Margaglione 意大利 University of Foggia In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phen..
8. Blau, Nenad 瑞士 Kinderspital Zürich In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phen..
9. John,Moult 美国 University of Maryland Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase
10. Sakai, Norisuke 日本 Keio University In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: Diagnosis of tetrahydrobi..
11. Raymond C,Stevens 中国 上海科技大学 Structural studies on phenylalanine hydroxylase and implications toward understanding and treating p..
12. Torgeir,Flatmark 挪威 University of Bergen Crystal structure of the ternary complex of the catalytic domain of human phenylalanine hydroxylase ..
13. 杜家辉 中国 香港中文大学 Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong
14. Fok, Tai Fai 中国 香港中文大学 Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong
15. Wanders, Ronald J. A. 荷兰 University of AMSTERDAM Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong
16. Hayasaka, Kiyoshi 日本 Yamagata University Mutation analysis of phenylketonuria in Yamagata prefecture, Japan
17. Torgeir,Flatmark 挪威 University of Bergen Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase
18. Raymond C,Stevens 中国 上海科技大学 Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase
19. Raymond C,Stevens 中国 上海科技大学 The structural basis of phenylketonuria
20. Arnold,Munnich 法国 University of PARIS 05 The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase ..