Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an
autosomal recessive disorder of phenylalanine metabolism, in which especially high …

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …

In situ monitoring of endogenous amino acid loss through sweat can provide physiological
insights into health and metabolism. However, existing amino acid biosensors are unable to …

Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …

Phenylketonuria (PKU) is a rare disease caused by biallelic mutations in the PAH gene that
result in an inability to convert phenylalanine (Phe) to tyrosine, elevated blood Phe levels …

Introduction We report the practical, social and psychological issues of living with
phenylketonuria (PKU) from one of the largest surveys that has been completed by both …

This review discusses the epidemiology, pathophysiology, genetic etiology, and
management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn …

The functional role of long noncoding RNAs (lncRNAs) in inherited metabolic disorders,
including phenylketonuria (PKU), is unknown. Here, we demonstrate that the mouse lncRNA …

There is no evidence that Hippocrates, although being credited for it, ever literally stated 'let
thy food be thy medicine and thy medicine be thy food'. However, yet in line with …

Development of point-of-care platforms combining reliability and ease of use is a challenge
for the evolution of sensing in healthcare technologies. Here, we report the development …