Results 121 to 130 of about 6,168 (166)

Cholesteryl ester storage disease: Pathologic changes in an affected fetus

American Journal of Medical Genetics, Part A, 1987
AbstractThe prenatal diagnosis of cholesteryl ester storage disease, a rare autosomal recessive disorder, was made by demonstration of deficient lysosomal acid lipase activity in cultured amniocytes from an at‐risk fetus. The histochemical and ultrastructural changes in the affected fetus (at 17 gestational weeks) are described and compared to findings
Robert J. Desnick, Ronald E Gordon, Paul M Coates   +2 more
exaly   +3 more sources

Cholesteryl Ester Storage Disease: An underdiagnosed cause of cirrhosis in adults

Annals of Diagnostic Pathology, 2017
Cholesteryl Ester Storage Disease (CESD), is a rare multisystem autosomal recessive disorder and belongs to the broad family of lysosomal storage disorders. It can present anytime from infancy and childhood to even adulthood. The clinical manifestations are generally severe in infants and with milder forms in adults.
Kiyoko Oshima
exaly   +3 more sources

Cholesteryl Ester Storage Disease

Journal of Pediatric Gastroenterology and Nutrition, 2013
ABSTRACTObjective:LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency. Patients with CESD may often be misdiagnosed because symptoms may be nonspecific.
Bingnan, Zhang, Anthony F, Porto
openaire   +2 more sources

Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease

Journal of Inherited Metabolic Disease, 2009
SummaryLysosomal acid lipase (LAL) deficiency results in Wolman disease and cholesteryl ester storage disease (CESD), a more benign form. CESD is a recessive disorder characterized by hypercholesterolaemia, hypertriglyceridaemia, low blood HDL and variable phenotype, while hepatomegaly is usually evident during childhood or adolescence.
S. Decarlis, C. Agostoni, F. Ferrante, S. Scarlino, E. Riva, M. Giovannini   +5 more
openaire   +2 more sources

Plasma lipids and lipoproteins of a patient with cholesteryl ester storage disease

Journal of Inherited Metabolic Disease, 1984
AbstractThe plasma lipids, lipoproteins and lipolytic enzymes of a patient suffering from cholesterol ester storage disease were investigated and followed over a time period of 3 years. The patient was hypertriglyceridacmic and cholesterolaemic and exhibited very low levels of high density lipoproteins.
G M, Kostner, B, Hadorn, A, Roscher, R, Zechner   +3 more
openaire   +2 more sources

58 Cholesteryl Ester Storage Disease

2016
exaly   +2 more sources

Cholesteryl Ester Storage Disease

2016
Cholesteryl ester storage disease is a very rare lysosomal storage disorder that may present in an attenuated form in adult patients. This clinical phenotype is clearly distinguished from the aggressive form of cholesteryl ester storage disease known as Wolman disease with rapidly progressive, often fatal disease within the first year of life.
openaire   +1 more source

Cholesteryl Ester Storage Disease: Hepatopathology and Effects of Therapy With Lovastatin

Hepatology, 1990
We describe three patients with cholesteryl ester storage disease. Diagnosis was confirmed by demonstrating a deficiency in lysosomal acid cholesteryl hydrolase activity in cultured skin fibroblasts from each of these patients.
A M, Di Bisceglie, K G, Ishak, L, Rabin, J M, Hoeg   +3 more
openaire   +2 more sources

Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease

Biochemical Medicine, 1985
Cholesteryl ester storage disease, caused by the loss of lysosomal acid ester hydrolase (EC 3.1.1.13), has been previously associated with hyperlipidemia and premature atherosclerosis. We identified a 23-month-old female with cholesteryl ester storage disease and characterized the plasma lipids and lipoproteins in the proband and her family.
D R, Kelly, J M, Hoeg, S J, Demosky, H B, Brewer   +3 more
openaire   +2 more sources

Cholesteryl Ester Storage Disease: an Easily Missed Diagnosis in Oligosymptomatic Children

Zeitschrift Fur Gastroenterologie, 2013
Cholesteryl ester storage disease (CESD) is a rare, autosomal recessively inherited disorder resulting from deficient activity of lysosomal acid lipase (LAL). LAL is the key enzyme hydrolyzing cholesteryl esters and triglycerides stored in lysosomes after LDL receptor-mediated endocytosis.
P Lohse, R Ensenauer, P Bufler
exaly   +3 more sources