Novel Mutation in a Patient with Cholesterol Ester Storage Disease

Novel Mutation in a Patient with Cholesterol Ester Storage Disease

Cholesterol ester storage disease (CESD) is a chronic liver disease that typically presents with hepatomegaly. It is characterized by hypercholesterolemia, hypertriglyceridemia, high-density lipoprotein deficiency, and abnormal lipid deposition within multiple organs. It is an autosomal recessive di...

Full description

Bibliographic Details
Main Authors:	Patrick Lin, Sheela Raikar, Jennifer Jimenez, Katrina Conard, Katryn N. Furuya
Format:	Article
Language:	English
Published:	Hindawi Limited 2015-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2015/347342

Similar Items

Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease
by: Wang Jian, et al.
Published: (2005-10-01)

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease
by: Peter Lohse, et al.
Published: (2000-01-01)

Studies on cholesterol ester hydrolase
by: Gorban, Ali M. S.
Published: (1980)

Hormone-sensitive cholesterol ester hydrolase
by: Cook, K. G.
Published: (1982)

Liver histology in cholesteryl ester storage disease
by: Mukul Vij, et al.
Published: (2018-01-01)

Surface properties of cholesterol esters and methyl esters of polyenoic fatty acide /
by: Kwong, Chui Ngor
Published: (1969)

Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm
by: Kristi K. Fitzgerald, et al.
Published: (2014-01-01)

Endogenous cholesterol ester hydroperoxides modulate cholesterol levels and inhibit cholesterol uptake in hepatocytes and macrophages
by: Shuyuan Guo, et al.
Published: (2019-02-01)

Cytosolic cholesterol ester hydrolase in adrenal cortex
by: Tocher, Douglas R.
Published: (1983)

Incorporation of labeled cholesterol esters into chylomicrons in vitro
by: Steven H. Quarfordt, et al.
Published: (1966-09-01)

Fractionation of cholesterol esters by thin-layer chromatography
by: L.J. Morris
Published: (1963-07-01)

Enzymatic assay for cholesterol ester hydrolase activity.
by: L L Gallo, et al.
Published: (1978-09-01)

Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
by: Leander D. Timothy, et al.
Published: (2019-01-01)

Regulation of hepatic cholesterol ester hydrolase and acyl-coenzyme A:cholesterol acyltransferase in the rat.
by: B G Stone, et al.
Published: (1989-11-01)

Physical studies of cholesterol and cholesteryl esters in model membranes
by: Malcolmson, Richard Joseph
Published: (1994)

Studies on the Oxidation of Cholesterol and Cholesteryl Esters in Model Systems
by: Ya-Min, Kao, et al.
Published: (1996)

Influence of diet on the composition of plasma cholesterol esters in man
by: P.J. Nestel, et al.
Published: (1966-07-01)

A method for rapid microsynthesis of radioactive cholesterol esters
by: Karoly G. Pinter, et al.
Published: (1964-04-01)

Enzymic formation of esters of methyl sterol precursors of cholesterol
by: D.R. BRADY, et al.
Published: (1971-05-01)

Phytosterol ester processing in the small intestine: impact on cholesterol availability for absorption and chylomicron cholesterol incorporation in healthy humans[S]
by: Marie Josèphe Amiot, et al.
Published: (2011-06-01)

Triglyceride alters lysosomal cholesterol ester metabolism in cholesteryl ester-laden macrophage foam cells[S]
by: Jody C. Ullery-Ricewick, et al.
Published: (2009-10-01)

A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.
by: D Ameis, et al.
Published: (1995-02-01)

Hepatic overexpression of cholesteryl ester hydrolase enhances cholesterol elimination and in vivo reverse cholesterol transport
by: Bin Zhao, et al.
Published: (2008-10-01)

Fenofibrate increases HDL-cholesterol by reducing cholesteryl ester transfer protein expression
by: Caroline C. van der Hoogt, et al.
Published: (2007-08-01)

The esters of cholesterol : constitution of their fatty acid component in human serum
by: Riley, Clifford
Published: (1958)

Studies on cholesterol ester hydrolase in steroid hormone producing tissues
by: Beckett, G. J.
Published: (1976)

The determination of esterified fatty acids in glycerides, cholesterol esters, and phosphatides
by: Wesley D. Skidmore, et al.
Published: (1962-07-01)

Separation of tissue cholesterol esters and triglycerides by silicic acid chromatography
by: M.G. Horning, et al.
Published: (1960-10-01)

Simultaneous determination of triglycerides and cholesterol esters in serum by infrared spectrophotometry
by: Norman K. Freeman
Published: (1964-04-01)

In vivo turnover of different cholesterol esters in rat liver and plasma
by: DeWitt S. Goodman, et al.
Published: (1964-10-01)

Interactions of cholesterol esters with phospholipids: cholesteryl myristate and dimyristoyl lecithin.
by: M J Janiak, et al.
Published: (1979-02-01)

Free cholesterol and cholesterol esters in bovine oocytes: Implications in survival and membrane raft organization after cryopreservation.
by: Jorgelina Buschiazzo, et al.
Published: (2017-01-01)

Intracellular cholesterol transporter StarD4 binds free cholesterol and increases cholesteryl ester formation*
by: Daniel Rodriguez-Agudo, et al.
Published: (2008-07-01)

Thermal transitions and structural properties of synthetic cholesterol alkyl and alkenyl ethers: analogues of biological cholesterol esters.
by: R J Deckelbaum, et al.
Published: (1983-05-01)

Effect of infusion of 'tris-galactosyl-cholesterol' on plasma cholesterol, clearance of lipoprotein cholesteryl esters, and biliary secretion in the rat.
by: H J Kempen, et al.
Published: (1987-06-01)

Translation inhibitors induce formation of cholesterol ester-rich lipid droplets.
by: Michitaka Suzuki, et al.
Published: (2012-01-01)

Short-term LDL cholesterol-lowering efficacy of plant stanol esters
by: Sarkkinen Essi, et al.
Published: (2002-08-01)

Effect of diet on the cholesterol ester composition of liver and of plasma lipoproteins in the rat
by: Lewis I. Gidez, et al.
Published: (1965-07-01)

Cholesterol quantitation by GLC: artifactual formation of short-chain steryl esters.
by: J J Klansek, et al.
Published: (1996-01-01)

Choleteryl ester storage disease: A rare cause of adrenal calcifications in children
by: Fatiha Benmiloud, et al.
Published: (2020-01-01)

Cannot write session to /tmp/vufind_sessions/sess_bs0lt67vpk6qg86nprailj9egi