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Sarah Shefer

Researcher at University of Medicine and Dentistry of New Jersey

Publications -  180
Citations -  8296

Sarah Shefer is an academic researcher from University of Medicine and Dentistry of New Jersey. The author has contributed to research in topics: Cholesterol & Bile acid. The author has an hindex of 49, co-authored 180 publications receiving 8039 citations. Previous affiliations of Sarah Shefer include United States Department of Veterans Affairs & North Shore University Hospital.

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Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype

TL;DR: A new metabolic disorder presenting with hyperlipidemia caused by a homozygous deletion mutation in CYP7A1 is reported, which leads to a frameshift that results in loss of the active site and enzyme function.
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Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid

TL;DR: It is concluded that long-term therapy with chenodeoxycholic acid may correct the biochemical abnormalities and arrest and possibly reverse the progression of cerebrotendinous xanthomatosis.
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Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis.

TL;DR: It is postulate that the changes in sitosterol metabolism (increased absorption, loss of tissue sterol structural recognition, expanded pools, and hepatic retention) are a response to reduced cholesterol synthesis in these subject.