CARDIOMYOPATHY AND CARNITINE DEFICIENCY

Carnitine is essential for the transfer of long-chain fatty acids across the mitochondrial membrane for subsequent beta-oxidation. A defect in the high affinity carnitine transporter OCTN2 causes autosomal recessive primary carnitine deficiency that can present with hypoketotic hypoglycemia, mainly...

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Main Authors: di San Filippo, Cristina Amat, Taylor, Matthew R. G., Mestroni, Luisa, Botto, Lorenzo D., Longo, Nicola
Formato: Artigo
Idioma:Inglês
Publicado: 2008
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2430214/
https://ncbi.nlm.nih.gov/pubmed/18337137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.02.002
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