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...

Descripción completa

Detalles Bibliográficos
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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463056/
https://www.ncbi.nlm.nih.gov/pubmed/32905092
http://dx.doi.org/10.1002/jmd2.12130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463056/
https://www.ncbi.nlm.nih.gov/pubmed/32905092
http://dx.doi.org/10.1002/jmd2.12130

Ejemplares similares