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Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)
William J. Griffiths +3 more
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Cerebrotendinous Xanthomatosis
The Indian Journal of Pediatrics, 2010We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases.
T. Siman-Tov, N. Gadoth
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Cerebrotendinous Xanthomatosis
Neurologic Clinics, 1989Cerebrotendinous xanthomatosis is a rare familial lipid storage that is caused by a defect in bile acid synthesis. As a result, large amounts of cholestanol, the 5 alpha-dihydro derivative of cholesterol, accumulate in virtually every tissue, with extra large deposits in the nervous system, xanthomas, and bile.
V M, Berginer, G, Salen, S, Shefer
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Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis [PDF]
Journal of Clinical Lipidology, 2018 P Barton Duell +2 more
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Cerebrotendinous xanthomatosis revisited
Practical Neurology, 2021Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.
Seyed Mohammad Baghbanian +2 more
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Cerebrotendinous xanthomatosis
Current Opinion in Lipidology, 1994Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease.
E, Leitersdorf, V, Meiner
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Cerebrotendinous xanthomatosis
Journal of the American Academy of Dermatology, 2001Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene. The accumulation of cholestanol in various tissues characterizes this disease. Diagnosis is based on determination of urinary bile alcohols.
S, Bel +6 more
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Cerebrotendinous Xanthomatosis
The Journal of Dermatology, 1990AbstractA case report on a 23‐year‐old female patient with cerebrotendinous xanthomatosis (CTX) is presented. From 8 years of age, the patient clinically showed multiple xanthoma masses on both knees, both heels, and the nasal bridge, juvenile cataracts, multiple abnormal neurologic dysfunctions, and dementia.
S Y, Hwang, K H, Lee, J I, Ahn
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Cerebrotendinous xanthomatosis
Clinical Neurology and Neurosurgery, 1992Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas.
J L, van Hellenberg Hubar +2 more
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