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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Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2013
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3749380/
https://ncbi.nlm.nih.gov/pubmed/23624251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jhep.2013.04.016
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