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Introduction: Phenylketonuria (PKU) is caused by mutation of the enzyme, phenylalanine (Phe) hydroxylase (PAH). The… Expand Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. Until recently, the only treatment for PKU was… Expand BackgroundSapropterin dihydrochloride, an EMEA-approved synthetic formulation of BH4, has been available in Europe since 2009 for… Expand This article summarizes the present knowledge, recent developments, and common pitfalls in the diagnosis, classification, and… Expand Sapropterin dihydrochloride, a synthetic, stable form of the tetrahydrobiopterin cofactor of phenylalanine hydroxylase, has been… Expand OBJECTIVE
To evaluate the ability of sapropterin dihydrochloride (pharmaceutical preparation of tetrahydrobiopterin) to increase… Expand Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to deficient conversion of… Expand Phenylketonuria (PKU) is an inherited metabolic disease characterized by phenylalanine (Phe) accumulation, which can lead to… Expand BACKGROUND
Early and strict dietary management of phenylketonuria is the only option to prevent mental retardation. We aimed to… Expand SummaryThis study aimed to evaluate the response to and safety of an 8-day course of sapropterin dihydrochloride (6R… Expand