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...
Main Authors: | , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2023-03-01
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Series: | Endocrinology, Diabetes & Metabolism |
Subjects: | |
Online Access: | https://doi.org/10.1002/edm2.396 |