Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

BACKGROUND: Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result in profound neurocognitive disability. The objective of this systematic literat...

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Detalles Bibliográficos
Autores principales: Foreman, Pamela K., Margulis, Andrea V., Alexander, Kimberly, Shediac, Renee, Calingaert, Brian, Harding, Abenah, Pladevall-Vila, Manel, Landis, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173927/
https://www.ncbi.nlm.nih.gov/pubmed/34082800
http://dx.doi.org/10.1186/s13023-021-01874-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173927/
https://www.ncbi.nlm.nih.gov/pubmed/34082800
http://dx.doi.org/10.1186/s13023-021-01874-6

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