Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival

Carnitine palmitoyltransferase (CPT) deficiencies are disorders of mitochondrial fatty acid oxidation (FAO). In fatty acid oxidation, long-chain fatty acids need the carnitine cycle to be transported from the cytosol to the mitochondria. In CPT II deficiency, long-chain acylcarnitines cannot be meta...

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Main Authors: Hissink-Muller, Petra, Lopriore, Enrico, Boelen, Carolien, Klumper, Frans, Duran, Marinus, Walther, Frans
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2009
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3027782/
https://ncbi.nlm.nih.gov/pubmed/21709843
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.02.2009.1550
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