Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: Non-invasive identification and treatment monitoring by magnetic resonance

BACKGROUND & AIMS: Lysosomal Acid Lipase (LAL) deficiency is a rare metabolic storage disease, caused by a marked reduction in activity of LAL, which leads to accumulation of cholesteryl esters (CE) and triglycerides (TG) in lysosomes in many tissues. We used (1)H magnetic resonance (MR) spectro...

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Detalles Bibliográficos
Autores principales: Thelwall, Peter E., Smith, Fiona E., Leavitt, Mark C., Canty, David, Hu, Wei, Hollingsworth, Kieren G., Thoma, Christian, Trenell, Michael I., Taylor, Roy, Rutkowski, Joseph V., Blamire, Andrew M., Quinn, Anthony G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749380/
https://www.ncbi.nlm.nih.gov/pubmed/23624251
http://dx.doi.org/10.1016/j.jhep.2013.04.016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749380/
https://www.ncbi.nlm.nih.gov/pubmed/23624251
http://dx.doi.org/10.1016/j.jhep.2013.04.016

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