Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers

Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers

Background: Accumulation of phenylalanine (Phe) due to deficiency in the enzyme phenylalanine hydroxylase (PAH), responsible for the conversion of Phe into tyrosine leads to Phenylketonuria (PKU), a rare autosomal recessive inborn error of metabolism with a mean prevalence of approximately 1:10,000...

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Bibliographic Details
Main Authors: Ana Maria Martins, Andre Luiz Santos Pessoa, Andrea Amaro Quesada, Erlane Marques Ribeiro
Format: Article
Language:English
Published: Elsevier 2020-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Phenylketonuria
PKU
Phenylalanine
Newborn screening
Brazilian population
Inborn errors of metabolism
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300707

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http://www.sciencedirect.com/science/article/pii/S2214426920300707

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