Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

PURPOSE: 3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure to thrive, hemiparesis, muscular hypo...

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Pubblicato in:Genet Med
Autori principali: Shepard, Peter J., Barshop, Bruce A., Baumgartner, Matthias R., Hansen, John-Bjarne, Jepsen, Kristen, Smith, Erin N., Frazer, Kelly A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4422778/
https://ncbi.nlm.nih.gov/pubmed/25356967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.157
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