Synthetic molecular probes, chemosensors, and nanosensors used in combination with
innovative assay protocols hold great potential for the development of robust, low-cost, and …

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

Despite available treatment options, many patients with phenylketonuria (PKU) cannot
achieve target plasma phenylalanine (Phe) levels. We previously modified Escherichia coli …

Abstract Background The Treatable ID App was created in 2012 as digital tool to improve
early recognition and intervention for treatable inherited metabolic disorders (IMDs) …

Engineered probiotics are a kind of new microorganisms produced by modifying original
probiotics through gene editing. With the continuous development of tools and technology …

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

Parkinson's disease (PD) is a complex neurodegenerative condition in which genetic and
environmental factors interact to contribute to its etiology. Remarkable progress has been …

Phenylketonuria (PKU) or hyperphenylalaninemia is considered a paradigm for an inherited
(metabolic) liver defect and is, based on murine models that replicate all human pathology …

Summary The c. 1222C> T (p. Arg408Trp) variant in the phenylalanine hydroxylase gene
(PAH) is the most frequent cause of phenylketonuria (PKU), the most common inborn error of …

Phenylketonuria (PKU), an autosomal recessive disorder caused by pathogenic variants in
the phenylalanine hydroxylase (PAH) gene, results in the accumulation of blood …