Molecular and Cellular Pathology of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency

BACKGROUND: Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is diagnosed in the US through newborn screening (NBS). NBS often unequivocally identifies affected individuals, but a growing number of variant patterns can represent mild disease or heterozygous carriers. AIMS: To evalu...

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Main Authors: Schiff, Manuel, Mohsen, Al-Walid, Karunanidhi, Anuradha, McCracken, Elizabeth, Yeasted, Renita, Vockley, Jerry
Format: Artigo
Jezik:Inglês
Izdano: 2013
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3628282/
https://ncbi.nlm.nih.gov/pubmed/23480858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.02.002
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