Results 61 to 70 of about 6,168 (166)

Diagnostic Algorithm for Cholesteryl Ester Storage Disease

Journal of Pediatric Gastroenterology and Nutrition, 2018
ABSTRACTBackground:Lysosomal acid lipase deficiency (LAL‐D) is a rare autosomal recessive lysosomal lipid storage disorder that results in an early‐onset, severe, and lethal phenotype, known as Wolman disease, or a late‐onset, attenuated phenotype, cholesteryl ester storage disease (CESD).
Patryk, Lipiński, Agnieszka, Ługowska, Ekaterina Y, Zakharova, Piotr, Socha, Anna, Tylki-Szymańska   +4 more
openaire   +3 more sources

Detección de la mutación E8SJM en el gen LIPA, por PCR en tiempo real, para la investigación de la enfermedad por almacenamiento de ésteres de colesterol

Anales de la Facultad de Medicina, 2018
Introducción: La enfermedad por Almacenamiento de Ésteres de Colesterol (CESD; Cholesteryl Ester Storage Disease) es una enfermedad de depósito lisosomal, su presentación es bastante variable y su diagnóstico constituye un desafío.
Diana Rojas Málaga, Ursula Matte, Carlos Thadeu Schmidt Cerski, Roberto Giugliani   +3 more
doaj   +1 more source

Melatonin Promotes Improvement in Serum Lipid Levels and Liver Histopathology in Hyperlipidemic Rats

Lipids, Volume 61, Issue 5, Page 583-593, September 2026.
ABSTRACT Hyperlipidemia or dyslipidemia is the term used for the increase in lipid levels in blood plasma, usually occurring due to a high‐fat diet associated with a sedentary lifestyle. The increase in lipid levels can cause fatty infiltration in the liver known as hepatic steatosis, which can lead to inflammation, fibrosis, and necrosis consecutively.
Ana Cláudia Carvalho de Sousa, Jaiurte Gomes Martins da Silva, Érique Ricardo Alves, Laís Caroline da Silva Santos, Bruno José do Nascimento, Marcelle Mariana Sales de França, Vanessa Bischoff Medina, Ismaela Maria Ferreira de Melo, Álvaro Aguiar Coelho Teixeira, Valéria Wanderley Teixeira   +9 more
wiley   +1 more source

Molecular markers of brain cholesterol homeostasis are unchanged despite a smaller brain mass in a mouse model of cholesteryl ester storage disease. [PDF]

Lipids, 2022
Aqul AA, Ramirez CM, Lopez AM, Burns DK, Repa JJ, Turley SD.   +5 more
europepmc   +1 more source

Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin

The Turkish Journal of Pediatrics, 2006
Cholesteryl ester storage disease (CESD) is an autosomal recessive disorder resulting from lysosomal acid lipase deficiency and is usually characterized by hepatomegaly and hyperlipidemia.
Buket Dalgiç, Sinan Sari, Mehmet Gündüz, Fatih Ezgü, Leyla Tümer, Alev Hasanoğlu, Gülen Akyol   +6 more
doaj  

An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis

Egyptian Journal of Medical Human Genetics
Background Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the deficiency of the enzyme which hydrolyzes cholesterol esters and triglycerides; thus, there is pathologic accumulation of cholesterol in various tissues.
Rabab El Hawary, Safa Meshaal, Alia S. Eldash, Sohilla Lotfy, Dalia Abd Elaziz, Radwa Alkady, Rania Darwish, Aya Erfan, Mai Saad, Engy Chohayeb, Nermeen Galal, Aisha M. Elmarsafy   +11 more
doaj   +1 more source

Lysosomal Acid Lipase Deficiency: Therapeutic Options

Drug Design, Development and Therapy, 2020
Gregory M Pastores,1 Derralynn A Hughes2 1Department of Medicine (Genetics)/National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital and University College Dublin, Dublin, Ireland; 2Royal Free London NHS Foundation Trust,
Pastores GM, Hughes DA
doaj  

Cholesteryl ester storage disease. Report of a case.

Arquivos de gastroenterologia, 1989
Cholesteryl ester storage disease (CESD) is a rare disorder of familial incidence characterized by the accumulation of cholesteryl ester and triglycerides in the liver, intestine and bone marrow. Until now only 21 cases have been reported in the literature. We present a 9 months old girl presenting with increased abdominal girth.
C A, Coelho, M A, Balarin, K I, Coelho
openaire   +1 more source

Secreted enzyme uptake masks the in vivo phenotype of macrophage-specific lysosomal acid lipase deletion

Molecular Metabolism
Background and hypothesis: Lysosomal acid lipase (LAL) is so far the only known intracellular enzyme that is capable of hydrolyzing triglycerides and cholesteryl esters at an acidic pH inside the lysosome.
Suravi Mukherjee, Melanie Korbelius, Anita Pirchheim, Birgit Schwarz, Malena Diaz, Laszlo Schooltink, Gernot F. Grabner, Nemanja Vujić, Dagmar Kratky   +8 more
doaj   +1 more source

Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature. [PDF]

World J Clin Cases, 2020
Rashu EB, Junker AE, Danielsen KV, Dahl E, Hamberg O, Borgwardt L, Christensen VB, Wewer Albrechtsen NJ, Gluud LL.   +8 more
europepmc   +1 more source