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ACMG sets new lifelong guidelines for managing phenylalanine hydroxylase deficiency
Although similar to those published by the ACMG in 2014, European guidelines for managing PAH deficiency in 2017 stratified ...
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ACMG Unveils Key Guideline for Phenylalanine Deficiency
The American College of Medical Genetics and Genomics has just published its highly anticipated Evidence-Based Clinical ...
Nature3y
Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods
Purpose: Blood phenylalanine monitoring is critical for the management of phenylketonuria. We compared three methods for measuring blood phenylalanine concentration: the amino acid analyzer ...