Results 11 to 20 of about 18,706 (235)

Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease [PDF]

Lipids in Health and Disease, 2005
Background Cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the LIPA gene encoding lysosomal acid lipase.
Wang Jian, Miskie Brooke A, Liu Dora M, Tadiboyina Venu T, Hegele Robert A   +4 more
doaj   +3 more sources

Orthotopic liver transplantation in an adult with cholesterol ester storage disease. [PDF]

JIMD Rep, 2013
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lipid storage disorder associated with mutations of the gene encoding lysosomal acid lipase, manifestations of which include chronic liver disease and early atherosclerosis. Although normally presenting in childhood, severity is variable and the condition can occasionally remain ...
Ambler GK, Hoare M, Brais R, Shaw A, Butler A, Flynn P, Deegan P, Griffiths WJ.   +7 more
europepmc   +6 more sources

7524 Cholesterol ester storage disease [PDF]

J Endocr Soc
Abstract Disclosure: N. Ebrahimi: None. R. Cardenas Lara: None. S. Tariq: None. Introduction: Cholesterol ester storage disease (CESD) is a lysosomal disease that has deficiency of lysosomal acid lipase (LIPA or LAL). This is a rare autosomal recessive disorder of cholesterol metabolism first described by Fredrickson in ...
Ebrahimi, N, Lara, R Cardenas, Tariq, S
europepmc   +2 more sources

Choleteryl ester storage disease: A rare cause of adrenal calcifications in children

Apollo Medicine, 2020
Cholesteryl ester storage disease (CESD) in children is a rare anatomo-clinical entity, characterized by a secondary lysosomal accumulation and an autosomal recessive mutation in the LIPA gene, which results from a lysosomal acid lipase (LAL) deficiency.
Fatiha Benmiloud, Maria Rkain, A El Aouali, A Babakhouya, Noufissa Benajiba   +4 more
doaj   +1 more source

Cholesterol Ester and Triglyceride Metabolism in Intact Fibroblasts from Patients with Wolman's Disease and Cholesterol Ester Storage Disease [PDF]

Pediatric Research, 1984
Cholesterol ester and triglyceride metabolism was examined in intact fibroblast monolayers from normal individuals and patients with Wolman's disease and cholesterol ester storage disease. Cholesterol esters were introduced into cells by incubation in medium containing [3H]cholesteryl linoleate (CL) bound to human low density lipoprotein. Triglycerides
B K, Burton, W T, Remy, L, Rayman
openaire   +2 more sources

Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency

Molecular Therapy: Methods & Clinical Development, 2022
Lysosomal acid lipase deficiency (LAL-D) presents as one of two rare autosomal recessive diseases: Wolman disease (WD), a severe disorder presenting in infancy characterized by absent or very low LAL activity, and cholesteryl ester storage disease (CESD),
Patricia Lam, Anna Ashbrook, Deborah A. Zygmunt, Cong Yan, Hong Du, Paul T. Martin   +5 more
doaj   +1 more source

Role of cholesterol in regulating apolipoprotein B secretion by the liver

Journal of Lipid Research, 1996
The review examines the evidence that the supply of cholesterol available for incorporation into nascent lipoprotein particles exerts a regulatory influence on apolipoprotein (apo) B secretion by the liver.
G R Thompson, R P Naoumova, G F Watts
doaj   +1 more source

Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C

Residência Pediátrica, 2023
INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder involved in cholesterol ester metabolism. It is a poorly understood genetic cause of cirrhosis, dyslipidemia and premature atherosclerotic disease in children and ...
Marcella Borges, Luissa Hikari Hayashi Araujo, Bruno Lima, Laura Vagnini, Alberto Salles, Guerino Pelicer Neto-Magalhães, João Paulo Cristofolo, João Paulo Freitas, Pedro Ivo Aranas, Jacqueline Harouche Rodrigues Fonseca, Fernanda Seabra Souza Timm, Charles Marques Lourenço   +11 more
doaj   +1 more source

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program

Frontiers in Genetics, 2022
Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive lysosomal storage disorder, caused by homozygous or compound heterozygous pathogenic variants in the LIPA gene.
Ursa Sustar, Ursa Sustar, Urh Groselj, Urh Groselj, Urh Groselj, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tadej Battelino, Tinka Hovnik, Tinka Hovnik   +16 more
doaj   +1 more source

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report

Molecular Genetics and Metabolism Reports, 2019
We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in ...
Dominik Soll, Dominik Spira, Tim Hollstein, Linus Haberbosch, Ilja Demuth, Elisabeth Steinhagen-Thiessen, Thomas Bobbert, Joachim Spranger, Ursula Kassner   +8 more
doaj   +1 more source