Results 141 to 150 of about 6,168 (166)

Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

Journal of Hepatology, 2013
Robert J. Desnick, Helena Hůlková
exaly  

[Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].

Nihon rinsho. Japanese journal of clinical medicine, 1996
Wolman disease and cholesteryl ester storage disease (CESD) are caused by a deficiency of lysosomal acid lipase activity, resulting in massive accumulation of cholesteryl ester and triglycerides. Wolman disease occurs in infancy, with hepatosplenomegaly, steatorrhea and adrenal calcification. It is fatal before the age of 1 year.
openaire   +1 more source

Asymptomatic Cholesteryl Ester Storage Disease in an Adult Controlled with Simvastatin

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1997
S A, Iverson, S R, Cairns, C P, Ward, A H, Fensom   +3 more
openaire   +2 more sources

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the gene

Molecular Genetics and Metabolism, 2009
Livia Pisciotta, Stefano Bertolini, Alfredo Cantafora   +2 more
exaly  

Vascular calcification in cholesteryl ester storage disease

Molecular Genetics and Metabolism
Carmen Minea, Deepa Gopalan, Chong Yew Tan, Patrick Deegan   +3 more
openaire   +1 more source

Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease

Pediatrics International, 1997
Anna Tylki-Szymanska, Elzbieta Czarnowska   +1 more
exaly  

Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy

Pathology Research and Practice, 2004
Mirella Filocamo, Renata Boldrini, Rita Devito   +2 more
exaly  

Wolman disease/cholesteryl ester storage disease

2005
openaire   +1 more source

Orthotopic Liver Transplantation for Cholesteryl Ester Storage Disease

Journal of Clinical Gastroenterology, 1991
James N. Arterburn, William M. Lee, R. Patrick Wood, Byers W. Shaw, Rodney S. Markin   +4 more
openaire   +1 more source

Cholesteryl Ester Storage Disease: Relationship between Molecular Defects andActivity of Lysosomal Acid Lipase

Biochemical and Molecular Medicine, 1997
Thierry Levade, Robert Salvayre
exaly