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

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 …

Phenylketonuria (PKU) is an inborn error caused by deficiencies in phenylalanine (Phe)
metabolism. Mutations in the phenylalanine hydroxylase (PAH) gene are the main cause of …

Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional
phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in …

Transient transfection of mammalian cells using plasmid DNA is a standard method to
produce adeno-associated virus (AAV) vectors allowing for flexible and scalable …

Phenylketonuria (PKU) is a genetic deficiency of phenylalanine hydroxylase (PAH) in liver
resulting in blood phenylalanine (Phe) elevation and neurotoxicity. A pegylated …

Amino acids are organic molecules that serve as basic substrates for protein synthesis and
have additional key roles in a diverse array of cellular functions, including cell signaling …

The liver is the metabolic center of the body and an ideal target for gene therapy of inherited
metabolic disorders (IMDs). Adeno‐associated viral (AAV) vectors can deliver transgenes to …

Hyperphenylalaninemia (HPA) is the most common amino acid metabolism defect in
humans. It is an autosomal-recessive disorder of the phenylalanine (Phe) metabolism, in …

There are many applications in which quantitative information about DNA mixtures with
different molecular lengths is important. Gene therapy vectors are much longer than can be …