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Pulmonary vascular obstruction associated with cholesteryl ester storage disease
The Journal of Pediatrics, 19796. Andersen PK, Christensen KN, Hole P, Juhl B, Rosendal T, and Stokke DB: Sodium nitroprusside and epidural blockade in the treatment of in ergotism, N Engl J Med 296:1271, 1977. 7. Mitchell SW: On a rare vasomotor neurosis of the extremities and of the maladies with which it may be confounded, Am J Med Sci 76:2, 1878. 8.
V V, Michels +4 more
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Journal of Inherited Metabolic Disease, 1995
SummaryCholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13). We have identified compound heterozygous mutations in a family with two siblings affected with CESD.
C L, Maslen +2 more
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SummaryCholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13). We have identified compound heterozygous mutations in a family with two siblings affected with CESD.
C L, Maslen +2 more
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Cholesteryl Ester Storage Disease with Secondary Lecithin Cholesterol Acyl Transferase Deficiency
Journal of Inherited Metabolic Disease, 1988Cholesterol ester storage disease (CESD; McKusick 21500) is a rare lipid storage disorder inherited in an autosomal recessive manner. The disease results from a marked deficiency of lysosomal acid esterase activity which gives characteristic blood lipid abnormalities (plasma lipoprotein pattern type IIa or IIb). Wolman’s disease is the more severe form
Van Erum, S. +6 more
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The Netherlands journal of medicine, 2015
Cholesteryl ester storage disease (CESD) is a rare autosomal recessive disease caused by mutations in LIPA. Here we describe two different clinical presentations of this disease: one case with a clear phenotype of familial hypercholesterolaemia and one case with hepatosplenomegaly from childhood onwards.
Sjouke, B. +9 more
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Cholesteryl ester storage disease (CESD) is a rare autosomal recessive disease caused by mutations in LIPA. Here we describe two different clinical presentations of this disease: one case with a clear phenotype of familial hypercholesterolaemia and one case with hepatosplenomegaly from childhood onwards.
Sjouke, B. +9 more
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American journal of human genetics, 1985
The lysosomal enzyme responsible for cholesteryl ester hydrolysis, acid cholesteryl ester hydrolase, or acid lipase (E.C.3.1.1.13) plays an important role in cellular cholesterol metabolism. Loss of the activity of this enzyme in tissues of individuals with both Wolman disease and cholesteryl ester storage disease is believed to play a causal role in ...
J M, Hoeg +3 more
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The lysosomal enzyme responsible for cholesteryl ester hydrolysis, acid cholesteryl ester hydrolase, or acid lipase (E.C.3.1.1.13) plays an important role in cellular cholesterol metabolism. Loss of the activity of this enzyme in tissues of individuals with both Wolman disease and cholesteryl ester storage disease is believed to play a causal role in ...
J M, Hoeg +3 more
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[Cholesteryl ester storage disease in the liver (author's transl)].
Leber, Magen, Darm, 1982Cholesteryl ester storage disease is a rare disorder if cholesterol metabolism characterized by excessive hepatic storage of cholesteryl esters. The underlying defect probably is decreased activity of alpha-naphtyl-acetatesterase, a lysosomal acid lipase. The leading symptom in the early stage is a pronounced enlargement of the liver without subjective
H D, Kuntz +3 more
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Treatment of Cholesteryl Ester Storage Disease with Combined Cholestyramine and Lovastatin
Annals of the New York Academy of Sciences, 1991E, McCoy, S, Yokoyama
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