A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

Most conditions detected by expanded newborn screening result from deficiency of one of the enzymes that degrade acyl-coenzyme A (CoA) esters in mitochondria. The role of acyl-CoAs in the pathophysiology of these disorders is poorly understood, in part because CoA esters are intracellular and sample...

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Detalles Bibliográficos
Autores principales: Gauthier, Nicolas, Wu, Jiang Wei, Wang, Shu Pei, Allard, Pierre, Mamer, Orval A., Sweetman, Lawrence, Moser, Ann B., Kratz, Lisa, Alvarez, Fernando, Robitaille, Yves, Lépine, François, Mitchell, Grant A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702508/
https://www.ncbi.nlm.nih.gov/pubmed/23861731
http://dx.doi.org/10.1371/journal.pone.0060581

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702508/
https://www.ncbi.nlm.nih.gov/pubmed/23861731
http://dx.doi.org/10.1371/journal.pone.0060581

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