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Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria

Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic differences between BH4 responders and non-responders...

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Principais autores: Zoë Hawks, Joshua Shimony, Jerrel Rutlin, Dorothy K. Grange, Shawn E. Christ, Desirée A. White
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2017-09-01
Series:Molecular Genetics and Metabolism Reports
Assuntos:
Phenylketonuria
Sapropterin dihydrochloride
BH4
Intelligence
IQ
White matter
Diffusion tensor imaging
Acceso en liña:http://www.sciencedirect.com/science/article/pii/S2214426917300058
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