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Infant case of lysosomal acid lipase deficiency: Wolman's disease

Lysosomal acid lipase (LAL) deficiency is a rare autosomal recessive disorder which causes two distinct clinical phenotypes: Wolman's disease and cholesterol ester storage disease. LAL hydrolyses LDL-derived triglycerides and cholesterol esters to glycerol or cholesterol and free fatty acids. I...

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Autori principali: Sadhukhan, Meghmala, Saha, Amit, Vara, Roshni, Bhaduri, Bim
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4024536/
https://ncbi.nlm.nih.gov/pubmed/24832708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-202652
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