Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

Abstract Background Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs. Objective This study seeks for the first time to genotype and bioc...

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Main Authors: Carla Carducci, Wajdi Amayreh, Haneen Ababneh, Amjad Mahasneh, Buthaina Al Rababah, Kefah Al Qaqa, Momen Al Aqeel, Cristiana Artiola, Manuela Tolve, Sirio D'Amici, Nan Shen, Yongguo Yu, Alicia Hillert, Nastassja Himmelreich, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:JIMD Reports
Subjects:
genotyping
newborn screening
phenylketonuria
PKU incidence
tetrahydrobiopterin
Online Access:https://doi.org/10.1002/jmd2.12130

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