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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...
Autores principales: | Lowe, Tracy Brock, DeLuca, Jane, Arnold, Georgianne L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
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 |
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