Results 1 to 10 of about 18,706 (235)

Novel Mutation in a Patient with Cholesterol Ester Storage Disease [PDF]

Case Reports in Genetics, 2015
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 ...
Patrick Lin, Sheela Raikar, Jennifer Jimenez, Katrina Conard, Katryn N. Furuya   +4 more
doaj   +6 more sources

Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency [PDF]

Journal of Veterinary Internal Medicine
Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability ...
Pernilla Syrjä, Mathilda M. H. Ylenius, Matilda Kråkström, Alex M. Dickens, Elina Rautala, Anna Huupponen, Anders Eriksson, Sanna J. Viitanen   +7 more
doaj   +2 more sources

Clinical guidelines for the management of children with lysosomal acid lipase deficiency

Педиатрическая фармакология, 2023
Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester storage ...
Inga V. Anisimova, Marina B. Albegova, Madlena E. Bagaeva, Galina V. Baidakova, Aleksandr A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Anna V. Degtiareva, Marat V. Ezhov, Maria S. Zharkova, Nataliia V. Zhurkova, Ekaterina Yu. Zaharova, Vladimir T. Ivashkin, Elena A. Kamenets, Sergey I. Kutzev, Alla E. Lavrova, Irina A. Matinian, Svetlana V. Mikhailova, Leyla S. Namazova-Baranova, Irina E. Pashkova, Elena E. Petriaykina, Tatiana M. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, Svetlana A. Repina, Lilia R. Selimzianova, Tamara A. Skvortsova, Tatiana V. Strokova, Dmitriy M. Subbotin, Andrey N. Surkov, Elena L. Tumanova, Ekaterina G. Tzimbalova   +32 more
doaj   +1 more source

Cholesterol esterification and p53-mediated tumor suppression

Exploration of Targeted Anti-tumor Therapy, 2023
Many human cancers carry missense mutations in or deletions of the tumor protein 53 (TP53) tumor suppressor gene. TP53’s product, p53 regulates many biological processes, including cell metabolism. Cholesterol is a key lipid needed for the maintenance of
Youjun Li, Michael Karin, Edward V. Prochownik   +2 more
doaj   +1 more source

Lysosomal acid lipase deficiency in a 6-year-old child: case report

Archives of the Balkan Medical Union, 2020
Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI, Anna KABAKOVA, Anna-Mariia SHULHAI   +2 more
doaj   +1 more source

Lysosomal acid lipase deficiency – an underestimated cause of hypercholesterolemia in children

Медицинский совет, 2022
Lysosomal acid lipase deficiency (LAL-D) is a rare, progressive, autosomal recessive disease, which develops due to impaired degradation and subsequent intra-lysosomal accumulation of triglycerides and cholesterol esters causing dyslipidemia.
I. I. Pshenichnikova, I. N. Zakharova, E. V. Skorobogatova, T. I. Bocharova, Yu. V. Koba   +4 more
doaj   +1 more source

Prostate cancer cell proliferation is influenced by LDL-cholesterol availability and cholesteryl ester turnover

Cancer & Metabolism, 2022
Background Prostate cancer growth is driven by androgen receptor signaling, and advanced disease is initially treatable by depleting circulating androgens.
Nikki L. Raftopulos, Tinashe C. Washaya, Andreas Niederprüm, Antonia Egert, Mariam F. Hakeem-Sanni, Bianca Varney, Atqiya Aishah, Mariya L. Georgieva, Ellinor Olsson, Diandra Z. dos Santos, Zeyad D. Nassar, Blake J. Cochran, Shilpa R. Nagarajan, Meghna S. Kakani, Jordan F. Hastings, David R. Croucher, Kerry-Anne Rye, Lisa M. Butler, Thomas Grewal, Andrew J. Hoy   +19 more
doaj   +1 more source

Lysosomal Acid Lipase Deficiency in the Etiological Investigation of Cryptogenic Liver Disease in Adults: A Multicenter Brazilian Study

Gastroenterology Insights, 2023
Background: Lysosomal acid lipase deficiency (LAL-D) is a rare genetic disease associated with the deregulation of lipid metabolism, leading to atherosclerosis, dyslipidemia, and hepatic steatosis, with potential progression to cirrhosis.
Aline Coelho Rocha Candolo, Guilherme Grossi Lopes Cançado, Patricia Momoyo Zitelli, Daniel Ferraz de Campos Mazo, Claudia Pinto Marques Oliveira, Marlone Cunha-Silva, Raquel Dias Greca, Roberta Chaves Araújo, Amanda Sacha Paulino Tolentino Alustau, Claudia Alves Couto, Mateus Jorge Nardelli, Roque Gabriel Rezende de Lima, Alberto Queiroz Farias, Flair José Carrilho, Mário Guimarães Pessôa   +14 more
doaj   +1 more source

Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery

Педиатрическая фармакология, 2016
The deficiency of lysosomic acid lipase is a rare hereditary enzymopathy. The focus of this article is the present condition of this issue. The authors demonstrate epidemiological data and etiopathogenetic features of two phenotypic forms of lysosomic ...
A. A. Baranov, L. S. Namazova-Baranova, O. S. Gundobina, S. V. Mikhailova, E. U. Zakharova, E. A. Vishnyova, K. V. Savostianov, M. U. Stepanyan   +7 more
doaj   +1 more source

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

Orphanet Journal of Rare Diseases, 2018
Background Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini   +4 more
doaj   +1 more source