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

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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Bibliographic Details
Main Authors: M. Kreile, O. Lubina, I. Ozola-Zalite, R. Lugovska, N. Pronina, O. Sterna, P. Vevere, M. Konika, I. Malniece, L. Gailite
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Phenylketonuria
Phenylalanine
PAH
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301178

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http://www.sciencedirect.com/science/article/pii/S2214426920301178

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