The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.
Scientific Reports
Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X
Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.
Experimental & Molecular Medicine
Lee, Yong Wha YW; Lee, Dong Hwan DH; Kim, Nam Doo ND; Lee, Seung Tae ST; Ahn, Jee Young JY; Choi, Tae Youn TY; Lee, You Kyoung YK; Kim, Sun Hee SH; Kim, Jong Won JW; Ki, Chang Seok CS
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
American Journal Of Human Genetics
Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A