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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Detalles Bibliográficos
Autores principales: Martins, Ana Maria, Pessoa, Andre Luiz Santos, Quesada, Andrea Amaro, Ribeiro, Erlane Marques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7387838/
https://www.ncbi.nlm.nih.gov/pubmed/32742934
http://dx.doi.org/10.1016/j.ymgmr.2020.100624

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7387838/
https://www.ncbi.nlm.nih.gov/pubmed/32742934
http://dx.doi.org/10.1016/j.ymgmr.2020.100624

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