Diet therapy and metabolic control among Chilean adults with a neonatal diagnosis of Phenylketonuria
Abstract Phenylketonuria (PKU) is an autosomal recessive defect affecting the metabolic pathway of phenylalanine (Phe), causing hyperphenylalaninemia and neurotoxicity. Diagnosis must occur in the neonatal period and treatment should begin as early as possible. Evidence implies that treatment adhere...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
SciELO
2024-02-01
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Series: | Journal of Inborn Errors of Metabolism and Screening |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942024000100301&lng=en&tlng=en |