Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy

Abstract Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to correctly predict disease severity. The...

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Bibliographic Details
Main Authors: Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:Endocrinology, Diabetes & Metabolism
Subjects:
genotype
hyperphenylalaninemia
PAH
phenotype
phenylketonuria
PKU
Online Access:https://doi.org/10.1002/edm2.396

Internet

https://doi.org/10.1002/edm2.396

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