Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review

Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic condition affecting the mitochondrial beta-oxidation of long-chain fatty acids. This study reports on the clinical outcomes of patients diagnosed by newborn screening with VLCAD deficiency comparing metabolic parameters, enz...

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Bibliographic Details
Main Authors: Maria Al Bandari, Laura Nagy, Vivian Cruz, Stacy Hewson, Alomgir Hossain, Michal Inbar-Feigenberg
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:International Journal of Neonatal Screening
Subjects:
very long-chain acyl-CoA dehydrogenase deficiency
residual enzyme activity
newborn screening
Online Access:https://www.mdpi.com/2409-515X/10/2/29

Internet

https://www.mdpi.com/2409-515X/10/2/29

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