Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

Very long chain acyl-coA dehydrogenase deficiency (VLCADD) is an autosomal recessive inborn error of fatty acid oxidation detected by newborn screening (NBS). Follow-up molecular analyses are often required to clarify VLCADD-suggestive NBS results, but to date the outcome of these studies are not we...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Miller, Marcus J., Burrage, Lindsay C., Gibson, James B., Strenk, Meghan E., Lose, Edward J., Bick, David P., Elsea, Sarah H., Sutton, V. Reid, Sun, Qin, Graham, Brett H., Craigen, William J., Zhang, Victor Wei, Wong, Lee-Jun C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4790081/
https://ncbi.nlm.nih.gov/pubmed/26385305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2015.08.011
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