A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

BACKGROUND: In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe cognitive impairment. Blood Phe concentration is the main biochemical monit...

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Detalles Bibliográficos
Autores principales: Herle, Marion, Brunner-Krainz, Michaela, Karall, Daniela, Goeschl, Bernadette, Möslinger, Dorothea, Zobel, Joachim, Plecko, Barbara, Scholl-Bürgi, Sabine, Spenger, Johannes, Wortmann, Saskia B., Huemer, Martina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8374407/
https://www.ncbi.nlm.nih.gov/pubmed/34412683
http://dx.doi.org/10.1186/s13023-021-01996-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8374407/
https://www.ncbi.nlm.nih.gov/pubmed/34412683
http://dx.doi.org/10.1186/s13023-021-01996-x

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