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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.
2013
2013
PREVALENCE OF BLA CTX-M EXTENDED SPECTRUM BETA LACTAMASE GENE IN UROPATHOGENIC ESCHERICHIA COLI
Purpose: Extended spectrum beta lactamases (ESBLs) have been observed in virtually all the species of family Enterobacteriaceae… 
2012
2012
Impact of Power Allocation and Antenna Directivity in the Capacity of a Multiuser Cognitive Ad Hoc Network
This paper studies the benefits that power control and antenna directivity can bring to the capacity of a multiuser cognitive… 
2012
2012
Abstract P5-14-06: Analysis of test-therapy concordance for biomarkers uPA and PAI-1 in primary breast cancer in clinical hospital routine: Results of a prospective multi-center study at Certified…
Objective: Biomarkers uPA and PAI-1 are guideline recommended by ASCO, USA, and AGO, Germany, to be used in primary breast cancer… 
2012
2012
Analytical Performance of the IDS-iSYS CROSSLAPS (CTX-I) Automated Immunoassay
Background: As of late 2010, IOF and IFCC recommended s-PINP and s-CTX as reference analytes for bone turnover markers in… 
2011
2011
Mars Reconnaissance Orbiter: extended dual-purpose mission
The Mars Reconnaissance Orbiter (MRO) was launched from Cape Canaveral Air Force Station, Florida, aboard an Atlas V-401 launch… 
2009
2009
Hydrated mineral stratigraphy in
Introduction: Ius Chasma is a linear trough in western Valles Marineris, formed by horst and graben structures and mass wasting… 
1986
1986
Clinical and non-invasive assessment of anthracycline cardiotoxicity: perspectives on myocardial protection.
A series of 38 patients with solid tumours (N=29) and haematological malignancies (N=9) and with suspicion of cardiotoxicity (CTX… 
1985
1985
A novel route for the biosynthesis of cholestanol, and its significance for the pathogenesis of cerebrotendinous xanthomatosis.
The main symptoms in cerebrotendinous xanthomatosis (CTX) are caused by increased synthesis of cholestanol (5 alpha-cholestan-3… 
Review
1983
Review
1983
Depression in a patient with dementia secondary to cerebrotendinous xanthomatosis.
The occurrence of depression in a patient with pre-existing dementia, associated with a rare neurological disorder, is described… 
1981
1981
Comparative effects of xylitol- and sucrose-sweetened chew tablets and chewing gums on plaque quantity.
The effects of chewing gums and chew tablets sweetened with sucrose or xylitol on the quantity and adhesivity of dental plaque…