Results 201 to 210 of about 18,706 (235)

Cholesterol ester storage disease: a reported case.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 1995
Cholesterol ester storage disease is a rare autosomal recessive disease which is characterized by accumulation of cholesterol esters and triglycerides in the hepatocytes and other tissues. A 5-year and 4-month old Thai female with hepatosplenomegaly and hypercholesterolemia was diagnosed to have this disease by light and electron microscopic studies of
P, Thavarungkul, V, Hemsrichart, P, Supradish   +2 more
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Histochemical Abnormalities in Liver and Jejunal Biopsies from a Case of Cholesterol Ester Storage Disease

Journal of Inherited Metabolic Disease, 1988
Cholesterol ester storage disease (CESD) (McKusick 21500) is an uncommon inborn error of metabolism due to an acid lipase (EC 3.1.1.1) deficiency. Among the nearly 20 cases reported in the literature, most data concerned the liver and only two works, those of Partin and Schubert (1969) and Dincsoy et al. (1984), reported studies of small intestine. The
A, Lageron, J, Polonovski
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[Cholesterol ester storage disease: a rare disease or a rare diagnosis?].

Der Pathologe, 2009
We report the case of a 13-year-old boy with a longstanding history of unspecific hepatomegaly. The morphological investigations were diagnostic of a cholesterol ester storage disease (CESD), a rare autosomal recessive inherited disease with deficient activity of lysosomal acid lipase (LAL).
C, Weiler, F, Freudenberg, J, Müller-Höcker   +2 more
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[Cholesterol ester storage disease and sea-blue histiocytes].

Zentralblatt fur allgemeine Pathologie u. pathologische Anatomie, 1988
A case of cholesteryl ester storage disease (CESD) was found by liver biopsy in a 5-year-old boy. Hepatosplenomegaly, varying elevations of serum transaminases and hyperlipoproteinemia, type IIb, were detected clinically. The liver tissue was yellow. The cytoplasm of hepatocytes and Kupffer cells was foamy.
B, Künnert, K, Pöhlandt, I, Ruschke, E, Keller   +3 more
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Gallbladder Dysfunction in Cholesterol Ester Storage Disease

Journal of Pediatric Gastroenterology and Nutrition, 2010
Wolfram, Haller, Khalid, Sharif, Alastair Jw, Millar, Rachel M, Brown, Patrick J, McKiernan   +4 more
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Cholesterol ester storage disease, own clinical observation of a family case of the disease

Experimental and Clinical Gastroenterology
Lysosomal acid lipase deficiency is an orphan autosomal recessive disease associated with the presence of mutations in the LIPA gene. Clinical manifestations of lysosomal acid lipase deficiency come in two main forms: Wolman’s disease and cholesterol ester storage disease.
A. V. Nalyotov, A. I. Khavkin, D. I. Masyuta, G. V. Zueva, O. A. Kurysheva, O. E. Zhurbij   +5 more
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Muscle involvement in cholesterol ester storage disease

Neurology, 1992
C, Navarro, J M, Fernández, C, Domínguez, A, Ortega, S, Sancho, J, García   +5 more
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[Liver morphology and clinical aspects of a case of cholesterol ester storage disease].

Deutsche Zeitschrift fur Verdauungs- und Stoffwechselkrankheiten, 1989
Liver specimen morphology and clinical course of a case of cholesterol ester storage disease are presented. In a 16-year-old boy on the first biopsy a massive storage of neutral fats was found light microscopically and of cholesterol ester micropolariscopically.
J, Justus, J, Schulze, C, Kemmer, H, Riedel   +3 more
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[Wolman disease and cholesterol ester storage disease in adults. New means of study and diagnosis].

Annales de biologie clinique, 1987
Two clinical forms of lysosomal storage of neutral lipids with deficiency of acid lipase are known: the severe infantile form is called Wolman disease, whereas the more benign adult form is called "polycorie cholesterolique de l'adulte" or cholesteryl ester storage disease (CESD).
R, Salvayre, A, Nègre, A, Maret, J, Radom, L, Douste-Blazy   +4 more
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Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.

American journal of human genetics, 1981
Material cross-reacting with antibodies to acid lipase was demonstrated in fibroblasts of three patients with Wolman disease and three with cholesterol ester storage disease. Quantitation of the immunologically cross-reacting material (CRM) by a single radial immunodiffusion method revealed normal levels in both mutant cell types. CRM specific activity
B K, Burton, S P, Reed
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