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… (More)

Topic mentions per year

Topic mentions per year

1961-2017
02040608019612017

Papers overview

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Highly Cited
2009
Highly Cited
2009
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease that, despite the advances in immunosuppressive medical… (More)
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Highly Cited
2008
Highly Cited
2008
BACKGROUND KRAS mutation status is a candidate marker for predicting survival in patients with metastatic colorectal cancer (mCRC… (More)
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Highly Cited
2004
Highly Cited
2004
OBJECTIVES During 2003, the Health Protection Agency's Antibiotic Resistance Monitoring and Reference Laboratory began to receive… (More)
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Highly Cited
2003
Highly Cited
2003
Bone resorption may generate collagen fragments such as ICTP and CTX, which can be quantified in serum and/or urine by using… (More)
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Highly Cited
2000
Highly Cited
2000
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol… (More)
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1999
1999
We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many… (More)
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Highly Cited
1992
Highly Cited
1992
The regulation of synaptic transmission by Ca(2+)-activated potassium (gKca) channels was investigated at the frog neuromuscular… (More)
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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… (More)
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Highly Cited
1987
Highly Cited
1987
1. Intracellular recording from hippocampal CA1 pyramidal cells in the slice preparation was used to analyse the pharmacological… (More)
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Highly Cited
1984
Highly Cited
1984
We studied the effect of chenodeoxycholic acid in 17 patients with cerebrotendinous xanthomatosis. Before treatment, all subjects… (More)
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