Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 191 publications
Enzyme replacement therapy in cholesteryl ester storage disease: A case report on lysosomal acid lipase deficiency management.
Journal: Journal of clinical lipidology
Published: June 12, 2025
Glucocerebrosidase Deficiency Dysregulates Human Astrocyte Lipid Metabolism.
Journal: bioRxiv : the preprint server for biology
Published: January 27, 2025
Advanced Imaging and Cytometric Techniques to Characterize Lipid Accumulation in Wolman Disease.
Journal: Cytometry. Part A : the journal of the International Society for Analytical Cytology
Published: December 03, 2024
Successful pregnancy outcome in a woman with cholesteryl ester storage disease treated with enzyme replacement therapy.
Journal: Journal of clinical lipidology
Published: November 15, 2024
Lysosomal Acid Lipase Deficiency: A Report of Two Cases and a Review of the Literature.
Journal: Cureus
Published: November 07, 2024
Limited Alleviation of Lysosomal Acid Lipase Deficiency by Deletion of Matrix Metalloproteinase 12.
Journal: International journal of molecular sciences
Published: August 29, 2024
Impaired lysosomal acidity maintenance in acid lipase-deficient cells leads to defective autophagy.
Journal: The Journal of biological chemistry
Published: October 30, 2023
A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis.
Journal: Metabolic brain disease
Published: October 25, 2023
Structure-based virtual screening to identify potential lipase inhibitors to reduce lipid storage in Wolman disorder.
Journal: Advances in protein chemistry and structural biology
Published: January 27, 2023
Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: December 15, 2022
Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease.
Journal: Frontiers in genetics
Published: August 06, 2022
Last Updated: 10/31/2025