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Diet therapy and metabolic control among Chilean adults with a neonatal diagnosis of Phenylketonuria
Autor:
F. Peñaloza, E. Rojas-Agurto, F. Salazar, V. Hamilton, P. Peredo, J. F. Cabello, C. Arias, M. G. Crespo, V. Cornejo, M. J. Leal-Witt
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
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 a
Externí odkaz:
https://doaj.org/article/9b9894df60e64feaa4f71b0babbba23a