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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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: 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
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Research Reports
Acesso em linha: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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