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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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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2014
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| Assuntos: | |
| Acesso em linha: | 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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