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Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study

ABSTRACT Achieving and maintaining metabolic control is critical for children with phenylalanine hydroxylase (PAH) deficiency. This retrospective longitudinal cohort study investigated metabolic control and monitoring frequency of children with PAH deficiency (≤ 12 years) treated at one of 12 pediat...

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Asıl Yazarlar: Nataliya Yuskiv, Ammar Saad, Beth K. Potter, Sylvia Stockler‐Ipsiroglu, John J. Mitchell, Steven Hawken, Kylie Tingley, Michael Pugliese, Monica Lamoureux, Andrea J. Chow, Jonathan B. Kronick, Kumanan Wilson, Annette Feigenbaum, Sharan Goobie, Michal Inbar‐Feigenberg, Julian Little, Saadet Mercimek‐Andrews, Amy Pender, Chitra Prasad, Andreas Schulze, Yannis Trakadis, Gloria Ho, Hilary Vallance, Valerie Austin, Anthony Vandersteen, Andrea C. Yu, Cheryl Rockman‐Greenberg, Aizeddin A. Mhanni, Pranesh Chakraborty
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wiley 2025-09-01
Seri Bilgileri:JIMD Reports
Konular:
inborn errors of metabolism
inherited metabolic disease
metabolic control
phenylketonuria
Online Erişim:https://doi.org/10.1002/jmd2.70042
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