Results 161 to 170 of about 6,190 (205)
Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis
Journal of the Neurological Sciences, 1995 We report reduced respiratory chain enzyme activity in isolated muscle mitochondria and high levels of serum and CSF pyruvate and lactate in a case of cerebrotendinous xanthomatosis.
Maria Teresa Dotti, Antonio Federico
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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
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
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.
Mahesh, Kamate +2 more
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Journal of the European Academy of Dermatology and Venereology, 2006
AbstractBackground Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis.Objective To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease ...
S S S, Guirado +5 more
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AbstractBackground Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis.Objective To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease ...
S S S, Guirado +5 more
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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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British Journal of Dermatology, 1990
A patient with multiple subcutaneous xanthomata in whom there were only minor abnormalities of the fasting serum lipid profile is described. To our knowledge, this is only the second published case of subcutaneous xanthomatosis.
C B, Archer, D E, Sharvill, N P, Smith
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A patient with multiple subcutaneous xanthomata in whom there were only minor abnormalities of the fasting serum lipid profile is described. To our knowledge, this is only the second published case of subcutaneous xanthomatosis.
C B, Archer, D E, Sharvill, N P, Smith
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Cerebrotendinous Xanthomatosis
Archives of Ophthalmology, 1976A case of presumed cerebrotendinous xanthomatosis is described. The association of cataracts with central nervous system signs and tendon xanthoma is noted. Deposition of cholestanol appears to be the primary lesion in this disease.
W P, Kearns, W S, Wood
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Dyslipoproteinemia and Xanthomatosis
Pediatric Dermatology, 1984Abstract: The cutaneous markers associated with dyslipoproteinemia are reviewed in the context of the current view of lipid and lipoprotein metabolism. The utility of determining the plasma levels of lipoprotcins and certain apoproteins in children or adults with xanthomas or xanthelasma is discussed.
C, Haber, P O, Kwiterovich
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Journal of the American Medical Association, 1932
Xanthomatosis is a disease of lipoid metabolism in which storage tumors of lipoid appear in various places and in various organs, sometimes profoundly affecting the bodily health and welfare. There are five clinical entities included under this heading; namely, Gaucher's disease, Niemann-Pick's disease, Schuller-Christian's disease, the xanthomas ...
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Xanthomatosis is a disease of lipoid metabolism in which storage tumors of lipoid appear in various places and in various organs, sometimes profoundly affecting the bodily health and welfare. There are five clinical entities included under this heading; namely, Gaucher's disease, Niemann-Pick's disease, Schuller-Christian's disease, the xanthomas ...
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