Results 151 to 160 of about 6,168 (166)

Cholesteryl ester storage disease: report of three cases

Molecular Genetics and Metabolism, 2014
Marco A. Curiati, Sandra O. Kyosen, Carmen Silvia C. Mendes, Carolina S. Aranda, Debora Adriana P. Jimenez, Mariangela Cristina C. Barata, Francy S. Patricio, Ana Maria Martins   +7 more
openaire   +1 more source

Enzyme replacement therapy in fibroblasts from a patient with cholesteryl ester storage disease

FASEB Journal, 1989
Mark J Poznansky, M J Poznansky
exaly  

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

Human Mutation, 1998
Gerd Schmitz, Christoph Gasche, Christa Büchler   +2 more
exaly  

Expression and functional characterization of human lysosomal acid lipase gene () mutation responsible for cholesteryl ester storage disease (CESD) phenotype

Protein Expression and Purification, 2015
Jessica Ward
exaly  

Cholesterol trafficking-related serum lipoprotein functions in children with cholesteryl ester storage disease

Atherosclerosis, 2015
Laura Calabresi, Nicoletta Ronda, Franco Bernini   +2 more
exaly  

New spectrophotometric assays of acid lipase and their use in the diagnosis of wolman and cholesteryl ester storage diseases

Analytical Biochemistry, 1985
Robert Salvayre, Anne Negre, Arie Dagan
exaly  

HEPATOCARCINOMA COMPLICATING CHOLESTERYL ESTER STORAGE DISEASE DURING CHILDHOOD

Journal of Pediatric Gastroenterology and Nutrition, 2006
A Montesanto, M Spada, D Ismail, A Sonzogni, A Luca, G Maggiore, B Gridelli   +6 more
openaire   +1 more source

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer

Journal of Hepatology, 2000
Jana Ledvinová, Helena Poupětová, M Elleder   +2 more
exaly  

[Wolman disease and cholesteryl ester storage disease].

Nihon rinsho. Japanese journal of clinical medicine, 2001
openaire   +1 more source

Congenital cholesteryl ester storage disease: What are the implications in pregnancy?

European Journal of Obstetrics & Gynecology and Reproductive Biology, 2009
Muchabayiwa Gidiri, Ewan A. Masson, Eric Kilpatrick, Stephen W. Lindow   +3 more
openaire   +1 more source