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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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| 出版年: | Clin Pediatr Endocrinol |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Japanese Society for Pediatric Endocrinology
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5295247/ https://ncbi.nlm.nih.gov/pubmed/28203044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.26.17 |
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