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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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8110899/
https://ncbi.nlm.nih.gov/pubmed/33986768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.648493
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