Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance

INTRODUCTION: Phenylketonuria (PKU) is an inborn error of metabolism characterized by pathogenic variants of the phenylalanine hydroxylase (PAH) gene with a resulting accumulation of phenylalanine (Phe) to neurotoxic levels. Diagnosis of PKU in the Latvian population began in 1985 and the present st...

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Detalles Bibliográficos
Autores principales: Kreile, M., Lubina, O., Ozola-Zalite, I., Lugovska, R., Pronina, N., Sterna, O., Vevere, P., Konika, M., Malniece, I., Gailite, L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578541/
https://www.ncbi.nlm.nih.gov/pubmed/33101986
http://dx.doi.org/10.1016/j.ymgmr.2020.100671

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