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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Detalles Bibliográficos
Publicado en:JIMD Rep
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea: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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