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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Detalles Bibliográficos
Autores principales: Shepard, Peter J., Barshop, Bruce A., Baumgartner, Matthias R., Hansen, John-Bjarne, Jepsen, Kristen, Smith, Erin N., Frazer, Kelly A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422778/
https://www.ncbi.nlm.nih.gov/pubmed/25356967
http://dx.doi.org/10.1038/gim.2014.157

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422778/
https://www.ncbi.nlm.nih.gov/pubmed/25356967
http://dx.doi.org/10.1038/gim.2014.157

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