Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience

Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience

Objective: To define the biochemical and molecular characteristics and diagnostic outcomes of a large US cohort of VLCAD deficiency positive cases as detected by newborn screening (NBS) with MS:MS. This relatively common disorder of fatty acid oxidation is screened for in every state in America and...

Full description

Bibliographic Details
Main Authors: Jariya Upadia, Grace Noh, John J. Lefante, Hans C. Andersson
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
Acylcarnitine
Newborn screening
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000484

Internet

http://www.sciencedirect.com/science/article/pii/S2214426923000484

Similar Items