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Xanthomatosis, Cerebrotendinous

Known as: Xanthomatosis, Cerebrotendinous [Disease/Finding], Xanthomatoses, Cerebrotendinous, CTX 
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by… Expand
National Institutes of Health

Papers overview

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Review
2013
Review
2013
SUMMARY In the last 10 years, extended-spectrum β-lactamase-producing enterobacteria (ESBL-E) have become one of the main… Expand
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Review
2011
Review
2011
Scholars in management and economics widely share the assumption that business firms focus on profits only, while it is the task… Expand
Review
2008
Review
2008
Extended-spectrum beta-lactamases (ESBLs) have been increasingly reported in Europe since their first description in 1983. During… Expand
Review
2005
Review
2005
SUMMARY Extended-spectrum β-lactamases (ESBLs) are a rapidly evolving group of β-lactamases which share the ability to hydrolyze… Expand
Highly Cited
2004
Highly Cited
2004
OBJECTIVES During 2003, the Health Protection Agency's Antibiotic Resistance Monitoring and Reference Laboratory began to receive… Expand
Highly Cited
2000
Highly Cited
2000
The mechanisms leading to increased bone loss and skeletal fragility in women with postmenopausal osteoporosis are still poorly… Expand
Highly Cited
2000
Highly Cited
2000
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol… Expand
Highly Cited
1996
Highly Cited
1996
Increased bone turnover has been suggested as a potential risk factor for osteoporotic fractures. We investigated this hypothesis… Expand
Highly Cited
1995
Highly Cited
1995
The diversity of Ca2+ channel types in rat cerebellar granule neurons was investigated with whole-cell recordings (5 mM external… Expand
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Highly Cited
1991
Highly Cited
1991
The sterol storage disorder cerebrotendinous xanthomatosis (CTX) is characterized by abnormal deposition of cholesterol and… Expand
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