Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia

Sitosterolemia is an extremely rare autosomal recessive disease caused by mutations in either ABCG5 or ABCG8, which encode for a sterol efflux transporter (sterolin) that pumps sterols out into the intestinal lumen or into bile. This leads to progressive accumulation of plant sterols in blood and ti...

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Detalles Bibliográficos
Autores principales: Kiss, Sharmila, Lee, Joy Yaplito, Pitt, James, MacGregor, Duncan, Wallace, Jane, Marty, Melanie, Brown, Natasha J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653237/
https://www.ncbi.nlm.nih.gov/pubmed/33204594
http://dx.doi.org/10.1002/jmd2.12161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653237/
https://www.ncbi.nlm.nih.gov/pubmed/33204594
http://dx.doi.org/10.1002/jmd2.12161

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