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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… 
National Institutes of Health

Related topics

Related topics

28 relations
Angina PectorisAutosomal recessive inheritanceCYP27A1 geneCYP27A1 wt Allele

Broader (3)

LipoidosisXanthomatosismyelinopathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the… 
Highly Cited
2006
Highly Cited
2006
Bortezomib reduces serum dickkopf‐1 and receptor activator of nuclear factor‐κB ligand concentrations and normalises indices of bone remodelling in patients with relapsed multiple myeloma
The effect of bortezomib on bone remodelling was evaluated in 34 relapsed myeloma patients. At baseline, patients had increased… 
Highly Cited
2005
Highly Cited
2005
High Rate of Fatal Cases of Pediatric Septicemia Caused by Gram-Negative Bacteria with Extended-Spectrum Beta-Lactamases in Dar es Salaam, Tanzania
ABSTRACT Extended-spectrum beta-lactamases (ESBLs) were present in high proportions of Escherichia coli (25% [9 of 36]) and… 
Highly Cited
2002
Highly Cited
2002
Chromosome-Encoded Ambler Class A β-Lactamase of Kluyvera georgiana, a Probable Progenitor of a Subgroup of CTX-M Extended-Spectrum β-Lactamases
ABSTRACT A chromosome-encoded β-lactamase gene, cloned and expressed in Escherichia coli from Kluyvera georgiana reference strain… 
Highly Cited
2001
Highly Cited
2001
Local adaptation enhances performance of common plant species
Geographic variation can lead to the evolution of different local varieties, even in widespread forage plants. We investigated… 
Highly Cited
2000
Highly Cited
2000
Analysis of calcium channels in single spines using optical fluctuation analysis
Most synapses form on small, specialized postsynaptic structures known as dendritic spines. The influx of Ca2+ ions into such… 
Highly Cited
1998
Highly Cited
1998
TcpP protein is a positive regulator of virulence gene expression in Vibrio cholerae.
The production of several virulence factors in Vibrio cholerae O1, including cholera toxin and the pilus colonization factor TCP… 
Review
1997
Review
1997
Neuronal Nicotinic Acetylcholine Receptor Activation Modulates g-Aminobutyric Acid Release from CA 1 Neurons of Rat Hippocampal Slices 1
In the present study we investigated electrophysiologically the nicotinic responses of pyramidal neurons and interneurons… 
Highly Cited
1983
Highly Cited
1983
Duplication and amplification of toxin genes in Vibrio cholerae
Highly Cited
1979
Highly Cited
1979
Cell death of motoneurons in the chick embryo spinal cord. IV. Evidence that a functional neuromuscular interaction is involved in the regulation of naturally occurring cell death and the…
Embryos immobilized with neuromuscular blocking agents for differing periods between 4.5 and 9 days of incubation had an… 
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