Results 101 to 110 of about 2,984,931 (176)

Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency

Case Reports in Gastroenterology, 2019
Lysosomal acid lipase deficiency (LALD) is a rare genetic disease characterized by the accumulation of cholesteryl esters and triglycerides in many organs, including the liver, spleen, lymph nodes, bone marrow, and vascular endothelium.
Maria Zharkova, Tatiana  Nekrasova, Vladimir  Ivashkin, Marina  Maevskaya, Tatyana Strokova   +4 more
doaj   +1 more source

ASXL1 in proinflammatory macrophages attenuates inflammatory activation and macrophage‐mediated renal tubular epithelial cell damage in acute kidney injury

Physiological Reports, Volume 14, Issue 19, October 2026.
ASXL1 in inflammatory macrophages attenuates renal tubular cell damage through coordinated histone modification of H3K27me3 and H3K4me3 in acute kidney injury. Abstract Macrophages are major contributors to inflammatory responses in acute kidney injury (AKI) and rapidly alter their gene expression through epigenetic regulation.
Yoshiyasu Ogura, Takehito Sugasawa, Masaomi Nangaku, Imari Mimura   +3 more
wiley   +1 more source

Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization

JIMD Reports, 2019
Allergic immune‐mediated hypersensitivity reactions are known potential complications of enzyme replacement therapy. Sebelipase alfa, recombinant lysosomal acid lipase (LAL), is a potentially life‐altering treatment for patients with LAL deficiency ...
Michelle F. Huffaker, Anne Y. Liu, Gregory M. Enns, Suresh Vijay, Antonio J. Amor, N. Franklin Adkinson Jr   +5 more
doaj   +1 more source

Dyslipidaemia: Lysosomal acid lipase deficiency-a cautious leap forward.

Nature reviews. Endocrinology, 2015
Lysosomal acid lipase deficiency can lead to liver failure and early death. A recently published placebo-controlled trial shows that enzyme-replacement therapy improves plasma levels of lipids and aminotransferases, and reduces liver fat content.
Hollak, Carla E. M., Hovingh, G. Kees
openaire   +2 more sources

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  

Lysosomal acid lipase deficiency, a rare pathology [PDF]

Gaceta Médica de México, 2023
Catalina Gómez-Duarte, Víctor García, Verónica Botero, Ana Aristizabal, Gabriel Echeverri, Harry Pachajoa   +5 more
openaire   +1 more source

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

, 2017
Background: Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 months of life; the only available ...
Jones, Simon A. and Rojas-Caro, Sandra and Quinn, Anthony G. and Friedman, Mark and Marulkar, Sachin and Ezgu, Fatih and Zaki, Osama and Gargus, J. Jay and Hughes, Joanne and Plantaz, Dominique and Vara, Roshni and Eckert, Stephen and Arnoux, Jean-Baptiste and Brassier, Anais and Le Quan Sang, Kim-Hanh and Valayannopoulos, Vassili
core   +1 more source

Burden of Lysosomal Acid Lipase Deficiency [PDF]

Value in Health, 2017
KM Johnston, BM Donato, LC Stewart, I Tomazos   +3 more
openaire   +1 more source

Identification of lysosomal lipolysis as an essential noncanonical mediator of adipocyte fasting and cold-induced lipolysis

The Journal of Clinical Investigation
Adipose tissue lipolysis is the process by which triglycerides in lipid stores are hydrolyzed into free fatty acids (FFAs), serving as fuel during fasting or cold-induced thermogenesis.
Yu-Sheng Yeh, Trent D. Evans, Mari Iwase, Se-Jin Jeong, Xiangyu Zhang, Ziyang Liu, Arick Park, Ali Ghasemian, Borna Dianati, Ali Javaheri, Dagmar Kratky, Satoko Kawarasaki, Tsuyoshi Goto, Hanrui Zhang, Partha Dutta, Francisco J. Schopfer, Adam C. Straub, Jaehyung Cho, Irfan J. Lodhi, Babak Razani   +19 more
doaj   +1 more source

Lysosomal acid lipase deficiency

Molecular Genetics and Metabolism
Natalya V. Zhurkova, Nato D. Vashakmadze, Tatyana A. Bokova, Anastasia I. Rykunova, Andrey N. Surkov, Olga S. Gundobina, Yulia Y. Kotalevskaya, Leyla S. Namazova-Baranova   +7 more
openaire   +2 more sources