Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis
Abstract 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...
Main Authors: | Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila, Sarah Landis |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-06-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13023-021-01874-6 |
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