Litcius/Paper detail

Phenylketonuria

Francjan J. van Spronsen, Nenad Blau, Cary O. Harding, Alberto Burlina, Nicola Longo, Annet M. Bosch

2021Nature Reviews Disease Primers469 citationsDOIOpen Access PDF

Topics & Concepts

Phenylalanine hydroxylaseMedicinePhenylalanineNewborn screeningTetrahydrobiopterinNeurocognitiveEpilepsyAdverse effectPediatricsIntellectual disabilityEtiologyInternal medicinePsychiatryAmino acidBiologyBiochemistryNitric oxideNitric oxide synthaseCognitionMetabolism and Genetic DisordersMitochondrial Function and PathologyAmino Acid Enzymes and Metabolism