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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Detalles Bibliográficos
Autores principales: Upadia, Jariya, Noh, Grace, Lefante, John J., Andersson, Hans C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10475501/
https://www.ncbi.nlm.nih.gov/pubmed/37671074
http://dx.doi.org/10.1016/j.ymgmr.2023.101002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10475501/
https://www.ncbi.nlm.nih.gov/pubmed/37671074
http://dx.doi.org/10.1016/j.ymgmr.2023.101002

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