Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

BACKGROUND: Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with changes in cognitive and psychological functioning. Skilled clinical management...

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Detalles Bibliográficos
Autores principales: Lowe, Tracy Brock, DeLuca, Jane, Arnold, Georgianne L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519570/
https://www.ncbi.nlm.nih.gov/pubmed/32977849
http://dx.doi.org/10.1186/s13023-020-01541-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519570/
https://www.ncbi.nlm.nih.gov/pubmed/32977849
http://dx.doi.org/10.1186/s13023-020-01541-2

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