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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: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | 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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