Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

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 biochemical...

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Publicat a:JIMD Rep
Autors principals: Carducci, Carla, Amayreh, Wajdi, Ababneh, Haneen, Mahasneh, Amjad, Al Rababah, Buthaina, Al Qaqa, Kefah, Al Aqeel, Momen, Artiola, Cristiana, Tolve, Manuela, D'Amici, Sirio, Shen, Nan, Yu, Yongguo, Hillert, Alicia, Himmelreich, Nastassja, Okun, Jürgen G., Hoffmann, Georg F., Blau, Nenad
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2020
Matèries:
Research Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7463056/
https://ncbi.nlm.nih.gov/pubmed/32905092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12130
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