نتایج جستجو برای: cerebrotendinous xanthomatosis
تعداد نتایج: 1043 فیلتر نتایج به سال:
OBJECTIVES The present study was carried out to evaluate the current prevalence of the clonal group O25b:H4-B2-ST131 among extended-spectrum β-lactamase (ESBL)-producing Escherichia coli (ESBLEC) collected in the Hospital Vall d'Hebron in Barcelona (Spain) with regard to other clonal groups and to characterize their genetic background. METHODS Ninety-four consecutive non-duplicate ESBLEC isol...
Servicio de Microbiologı́a, Hospital Universitario Ramón y Cajal, CIBER en Epidemiologı́a y Salud Pública (CIBERESP) and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain; Unidad de Resistencia a Antibióticos y Virulencia Bacteriana asociada al Consejo Superior de Investigaciones Cientı́ficas (CSIC), Madrid, Spain; Service de Bactériologie-Virologie, Hôpital de Bicêtre, Pa...
Cerebrotendinous xanthomatosis (CTX) is a rare inborn disorder of sterol storage with autosomal recessive inheritance and a variable clinical presentation. We describe two siblings with an early psychiatric presentation of CTX-associated attention-deficit/hyperactivity disorder and oppositional defiant disorder, also associated with a mild intellectual disability and major behavioral impairment...
The cholestanol content of a cataractous lens nucleus from a patient with cerebrotendinous xanthomatosis (CTX) was quantified by gas chromatography-mass spectrometry and found to be 0.27 micrograms per mg freeze-dried lens tissue. The cholestanol-cholesterol ratio of 1.7% in the lens nucleus was similar to that in the serum of the CTX patient. The cholestanol content and cholestanol-cholesterol...
Identification of an endogenous ligand that activates pregnane X receptor-mediated sterol clearance.
The nuclear receptor PXR (pregnane X receptor) is a broad-specificity sensor that recognizes a wide variety of synthetic drugs and xenobiotic agents. On activation by these compounds, PXR coordinately induces a network of transporters, cytochrome P450 enzymes, and other genes that effectively clear xenobiotics from the liver and intestine. Like PXR, the majority of its target genes also possess...
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