Results 101 to 110 of about 474 (133)

Base editing strategies for <i>in vivo</i> correction of two highly recurrent phenylketonuria variants. [PDF]

Mol Ther Nucleic Acids
Quigley A, Jindal I, Campion T, Rutherford D, Han Y, Quigley W, Qu P, Musunuru K, Ahrens-Nicklas R, Hong X, Wang X.   +10 more
europepmc   +1 more source

Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights [PDF]

Molecular Genetics and Metabolism
Objective: The aim of this study is to present a series of case studies on the real-life use of pegvaliase in Italy in managing patients affected by phenylketonuria (PKU) and provide practical insight and support to healthcare professionals currently ...
Daniela Gueraldi, Juri Zuvadelli
exaly   +5 more sources

Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice [PDF]

Molecular Genetics and Metabolism, 2022
Existing phenylalanine hydroxylase (PAH)-deficient mice strains are useful models of untreated or late-treated human phenylketonuria (PKU), as most contemporary therapies can only be initiated after weaning and the pups have already suffered irreversible
Shelley R Winn, Sandra Dudley, Tanja Scherer   +2 more
exaly   +2 more sources

Achieving efficacy in subjects with sustained pegvaliase-neutralizing antibody responses

Molecular Genetics and Metabolism, 2021
Pegvaliase (Palynziq®) is an enzyme substitution therapy using PEGylated recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) to reduce blood phenylalanine (Phe) levels in adults with phenylketonuria (PKU). In Phase 3 clinical studies, all subjects treated with pegvaliase developed anti-drug antibodies.
Huiyu Zhou, Kevin Larimore
exaly   +3 more sources

Two years of pegvaliase in Germany: Experiences and best practice recommendations

Molecular Genetics and Metabolism, 2023
In 2019, pegvaliase was approved in Europe for the treatment of phenylketonuria (PKU) in patients aged 16 years and older with blood phenylalanine (Phe) concentrations above 600 μmol/L despite prior management with available treatment options. Since its European approval, German metabolic centres have gained valuable experience, which may be of benefit
Johannes Kramer, Christoph Baerwald, Clemens Kamrath   +2 more
exaly   +3 more sources

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Nutrition status of adults with phenylketonuria treated with pegvaliase

Molecular Genetics and Metabolism, 2021
Pegvaliase is an enzyme substitution therapy that reduces blood phenylalanine (Phe) in adults with phenylketonuria (PKU), and often allows normalization of protein intake (≥0.8 g protein/kg). Here we examine the nutrition status of adults with PKU consuming a normal protein intake without medical food after being treated with pegvaliase for ≥1 year.A ...
Stephanie Sacharow, Fran Rohr
exaly   +3 more sources