Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System

INTRODUCTION: 3-Methyl crotonyl CoA carboxylase (3MCC) deficiency is an inborn error of leucine metabolism whose detection was increased with the advent of expanded newborn screening. While most NBS-identified infants appear clinically normal, prior studies suggest a possible increased risk for deve...

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Pubblicato in:Mol Genet Metab
Autori principali: Forsyth, RaeLynn, Vockley, Catherine Walsh, Edick, Mathew J., Cameron, Cynthia A., Hiner, Sally J., Berry, Susan A., Vockley, Jerry, Arnold, Georgianne L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5540133/
https://ncbi.nlm.nih.gov/pubmed/27033733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2016.02.002
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