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Published in 2022 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.926023
Abstract: Phenylketonuria (PKU) is an inborn error of metabolism. Mutations in the enzyme phenylalanine hydroxylase (PAH)-encoding gene lead to a decreased metabolism of the amino acid phenylalanine (Phe). The deficiency in PAH increases Phe levels in…
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Keywords:
cerebellar organotypic;
phe;
phe concentrations;
high phe ... See more keywords