Yazar "van Spronsen, Francjan J." için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme

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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 ...