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The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients

Molecular characterization of PAH deficiency has been proven essential in establishing treatment options. We examine the diagnostic accuracy of two genetic assays to predict BH4 responsiveness: to determine whether the AV sum test or mutation-status assessment test can obviate the need for BH4 loadi...

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Detalles Bibliográficos
Autores principales:	Zhu, Tianwen, Ye, Jun, Han, Lianshu, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Gu, Xuefan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533732/ https://www.ncbi.nlm.nih.gov/pubmed/28754886 http://dx.doi.org/10.1038/s41598-017-06462-y

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