A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe

Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the “ATP-binding cassette, subfamily G” member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of pla...

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Detalles Bibliográficos
Autores principales: Ono, Sahoko, Matsuda, Junko, Saito, Aki, Yamamoto, Takenobu, Fujimoto, Wataru, Shimizu, Hitomi, Dateki, Sumito, Ouchi, Kazunobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295247/
https://www.ncbi.nlm.nih.gov/pubmed/28203044
http://dx.doi.org/10.1297/cpe.26.17

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