Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia-Reference-Cited by-同舟云学术

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

Published:2020-08-20 Issue:1 Volume:56 Page:34-39
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Kiss Sharmila¹^ORCID,Lee Joy Yaplito¹²,Pitt James³²,MacGregor Duncan⁴,Wallace Jane³,Marty Melanie³,Brown Natasha J.³²

Affiliation:

1. Department of Metabolic Medicine The Royal Children's Hospital Parkville Victoria Australia

2. Department of Paediatrics University of Melbourne Melbourne Victoria Australia

3. Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville Victoria Australia

4. Department of Anatomical Pathology The Royal Children's Hospital Parkville Victoria Australia

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12161

Reference19 articles.

1. Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters

2. Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively

3. Sitosterolemia—10 years observation in two sisters

4. Phenotypic heterogeneity of sitosterolemia

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2. Case Report: Next Generation Sequencing in Clinical Practice–A Real Tool for Ending the Protracted Diagnostic Odyssey;Frontiers in Cardiovascular Medicine;2022-01-13

3. Dihydroartemisinin improves hypercholesterolemia in ovariectomized mice via enhancing vectorial transport of cholesterol and bile acids from blood to bile;Bioorganic & Medicinal Chemistry;2022-01

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