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Correction of Murine PKU Following AAV-mediated Intramuscular Expression of a Complete Phenylalanine Hydroxylating System

Phenylketonuria (PKU) caused by phenylalanine hydro-xylase (PAH) deficiency leads to toxic accumulation of phenylalanine (Phe). PAH is predominantly expressed in liver and its activity requires a supply of tetrahydrobiopterin (BH(4)) cofactor, but we propose that expression of a complete Phe hydroxy...

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Autors principals: Ding, Zhaobing, Harding, Cary O, Rebuffat, Alexandre, Elzaouk, Lina, Wolff, Jon A, Thöny, Beat
Format: Artigo
Idioma:Inglês
Publicat: 2008
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694057/
https://ncbi.nlm.nih.gov/pubmed/18362925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mt.2008.17
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