Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism with a variable presentation. The aim of this study was to describe five patients with VLCADD diagnosed through the pilot study and expanded newborn screening (NBS) program that...

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Detalles Bibliográficos
Autores principales: Remec, Ziga I., Groselj, Urh, Drole Torkar, Ana, Zerjav Tansek, Mojca, Cuk, Vanja, Perko, Dasa, Ulaga, Blanka, Lipovec, Neza, Debeljak, Marusa, Kovac, Jernej, Battelino, Tadej, Repic Lampret, Barbka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110899/
https://www.ncbi.nlm.nih.gov/pubmed/33986768
http://dx.doi.org/10.3389/fgene.2021.648493

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110899/
https://www.ncbi.nlm.nih.gov/pubmed/33986768
http://dx.doi.org/10.3389/fgene.2021.648493

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