Results 31 to 40 of about 353 (110)

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies. [PDF]

J Inherit Metab Dis
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Schiffmann R.
europepmc   +2 more sources

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

Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy [PDF]

РМЖ. Мать и дитя, 2022
N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation ...
N.A. Polyanskaya, A.A. Gorbunova, E.B. Pavlinova, O.A. Savchenko, I.A. Kirshina, M.E. Bagaeva, T.V. Strokova   +6 more
doaj  

Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation

Annals of Hepatology, 2019
Lysosomal acid lipase deficiency is a poorly diagnosed genetic disorder, leading to accumulation of cholesterol esters and triglycerides in the liver, with progression to chronic liver disease, dyslipidemia, and cardiovascular complications.
Marlone Cunha-Silva, Daniel F.C. Mazo, Bárbara R. Corrêa, Tirzah M. Lopes, Raquel C. Arrelaro, Gabriel L. Ferreira, Marcello I. Rabello, Tiago Sevá-Pereira, Cecilia A.F. Escanhoela, Jazon R.S. Almeida   +9 more
doaj   +1 more source

THE DISEASE IS THE ACCUMULATION OF CHOLESTEROL ESTERS DUE TO DEFICIT OF LYSOSOMAL ACID LIPASE. CLINICAL CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IS DESCRIBED IN THIS ARTICLE

Медицинский совет, 2018
Lysosomal acid lipase deficiency (LAL D) is an orphan disease connected with accumulation of cholesterol estersin different organs, interest to this disease increased due to the possibility of enzyme replacement therapy.
S. A. Loskutova, T. V. Belousova, A. B. Nikulina   +2 more
doaj   +1 more source

Integrating Single‐Cell Transcriptome‐Wide Mendelian Randomization and Differentially Expressed Gene Analyses to Prioritize Dynamic Immune‐Related Drug Targets for Cancers

Advanced Science, Volume 12, Issue 46, December 11, 2025.
Inspired by evidence triangulation, a new sensitivity method called MR‐DEG is developed, which uses the differentially expressed gene (DEG) results as additional evidence to minimize pleiotropic effects and strengthen Mendelian randomization (MR) causal estimates. Using dynamic single‐cell expression quantitative trait loci (eQTLs) as an example, it is
Jie Zheng, Qian Yang, Haoyu Liu, Huiling Zhao, Shuangyuan Wang, Yi Liu, Xueyan Wu, Yilan Ding, Hui Ying, Youqiu Ye, Xi Huang, Lei Ye, Ruizhi Zheng, Hong Lin, Mian Li, Tiange Wang, Zhiyun Zhao, Min Xu, Yi Duan, Hao Guo, Zhongshang Yuan, Philip Haycock, George Davey Smith, Richard M Martin, Guang Ning, Fang Hu, Weiqing Wang, Tom R. Gaunt, Jieli Lu, Yufang Bi   +29 more
wiley   +1 more source

Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency

Human Mutation, Volume 40, Issue 11, Page 2007-2020, November 2019., 2019
Abstract Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disorder caused by LIPA gene mutations that disrupt LAL activity. We performed in vitro functional testing of 149 LIPA variants to increase the understanding of the variant effects on LAL deficiency and to improve disease prevalence estimates. Chosen variants had been reported in
Guillermo del Angel, Andrew T. Hutchinson, Nina K. Jain, Chris D. Forbes, John Reynders   +4 more
wiley   +1 more source

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

Journal of Veterinary Internal Medicine, Volume 39, Issue 5, September/October 2025.
ABSTRACT 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 to properly break down and utilize lipids and in the accumulation of especially cholesterol ...
Pernilla Syrjä, Mathilda M. H. Ylenius, Matilda Kråkström, Alex M. Dickens, Elina Rautala, Anna Huupponen, Anders Eriksson, Sanna J. Viitanen   +7 more
wiley   +1 more source

Advanced Imaging and Cytometric Techniques to Characterize Lipid Accumulation in Wolman Disease

Cytometry Part A, Volume 107, Issue 7, Page 464-475, July 2025.
ABSTRACT Wolman disease (WD) is a severe lysosomal storage disorder characterized by fatal lipid accumulation caused by the deficiency of a lipid metabolic enzyme, Lysosomal Acid Lipase (LAL), involved in the lysosomal hydrolysis of cholesterols and triglycerides.
Marine Laurent, Jérémie Cosette, Giulia Pavani, Sarah Bayol, Christine Jenny, Rim Harb, Julie Oustelandt, Anais Brassier, Daniel Stockholm, Mario Amendola   +9 more
wiley   +1 more source

Would You Figure It Out? Differential Diagnoses: Beyond the Usual [PDF]

European Medical Journal Hepatology, 2015
The Synageva BioPharma-sponsored symposium discussed the differential diagnoses for liver diseases that may be under-recognised in clinical settings, with a focus on lysosomal acid lipase deficiency (LAL D).
Vlad Ratziu, Lauren Johansen, Christophe Moreno, Ali Canbay, Mark Bechter   +4 more
doaj