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...

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Hlavní autoři:	Jariya Upadia, Grace Noh, John J. Lefante, Hans C. Andersson
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2023-12-01
Edice:	Molecular Genetics and Metabolism Reports
Témata:	Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency Acylcarnitine Newborn screening
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2214426923000484
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