Browsing Tıp Fakültesi by Author "van Spronsen, Francjan J."
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International Best Practice For The Evaluation Of Responsiveness To Sapropterin Dihydrochloride In Patients With Phenylketonuria
Muntau, Ania C.; Adams, Darius J.; Belanger-Quintana, Amaya; Bushueva, Tatiana V.; Cerone, Roberto; Chien, Yin-Hsiu; Chiesa, Ana; Coskun, Turgay; de las Heras, Javier; Feillet, Francois; Katz, Rachel; Lagler, Florian; Piazzon, Flavia; Rohr, Fran; van Spronsen, Francjan J.; Vargas, Paula; Wilcox, Gisela; Bhattacharya, Kaustuv (2019)Phenylketonuria (PKU) is an inherited metabolic disease caused by phenylalanine hydroxylase (PAH) deficiency. As the resulting high blood phenylalanine (Phe) concentration can have detrimental effects on brain development ...