Identification of mild PAH deficiency through expanded carrier screening, undetected via newborn screening process

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Bibliographic Details
Published in:Molecular genetics and metabolism 2024-04, Vol.141 (4), p.108333, Article 108333
Main Authors: Becker, Karen, Paras, Andrea, Kozek, Anne, Vucko, Erika
Format: Article
Language:English
Online Access:Get full text
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ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2024.108333