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International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
(Academic Press Inc Elsevier Science, 2019-05)
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 ...