The complete European guidelines on phenylketonuria – Diagnosis and treatment (2017) A. M. J. van Wegberg

Description

A review detailing the development and content of standardized European guidelines for the management and diagnosis of Phenylketonuria (PKU), an autosomal recessive inborn error of phenylalanine metabolism. These guidelines were developed by professionals from 10 European countries using the AGREE, SIGN, and Delphi methods, resulting in 70 evidence-based statements aimed at optimizing and standardizing PKU care.