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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
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 |