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Last Updated: 01/07/2026

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Found 499 publications

Rapidly progressive, infantile lysosomal acid lipase deficiency: Prevalence in the Mizrahi Jewish population.

Rapidly progressive, infantile lysosomal acid lipase deficiency: Prevalence in the Mizrahi Jewish population.

Journal: Molecular genetics and metabolism
Published: July 29, 2025

Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease.

Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease.

Journal: ACG case reports journal
Published: July 22, 2025

Lysosomal acid lipase deficiency: The forgotten link between liver and cardiovascular disease.

Lysosomal acid lipase deficiency: The forgotten link between liver and cardiovascular disease.

Journal: World journal of cardiology
Published: June 27, 2025

Survival, growth, and safety findings in patients with rapidly progressive, infantile-onset LAL-D: Results from the international LAL-D registry.

Survival, growth, and safety findings in patients with rapidly progressive, infantile-onset LAL-D: Results from the international LAL-D registry.

Journal: Molecular genetics and metabolism
Published: June 24, 2025

Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report.

Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report.

Journal: Journal of orthopaedic case reports
Published: June 24, 2025

Effect of pemafibrate on high-density lipoprotein cholesterol levels and subspecies in a patient with cholesteryl ester transfer protein deficiency: A case report with mechanistic insights.

Effect of pemafibrate on high-density lipoprotein cholesterol levels and subspecies in a patient with cholesteryl ester transfer protein deficiency: A case report with mechanistic insights.

Journal: Journal of clinical lipidology
Published: June 12, 2025

Enzyme replacement therapy in cholesteryl ester storage disease: A case report on lysosomal acid lipase deficiency management.

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

Cholesteryl Ester Transfer Protein Deficiency and Hyperalphalipoproteinemia.

Cholesteryl Ester Transfer Protein Deficiency and Hyperalphalipoproteinemia.

Journal: Journal of atherosclerosis and thrombosis
Published: May 28, 2025

Beyond Cholesterol and Triglycerides in the Lipid Clinic: The Challenging Task of Identifying Lysosomal Acid Lipase Deficiency.

Beyond Cholesterol and Triglycerides in the Lipid Clinic: The Challenging Task of Identifying Lysosomal Acid Lipase Deficiency.

Journal: Arquivos brasileiros de cardiologia
Published: May 18, 2025

The lysosomal acid lipase deficiency spectrum from infancy to adulthood: a multidisciplinary experience.

The lysosomal acid lipase deficiency spectrum from infancy to adulthood: a multidisciplinary experience.

Journal: Nutrition, metabolism, and cardiovascular diseases : NMCD
Published: May 16, 2025

Incidental finding of adrenal calcifications leading to the diagnosis of lysosomal acid lipasedeficiency (Wolman disease) in a neonate.

Incidental finding of adrenal calcifications leading to the diagnosis of lysosomal acid lipasedeficiency (Wolman disease) in a neonate.

Journal: BMJ case reports
Published: May 09, 2025

Long-term clinical outcomes in lysosomal acid lipase deficiency: Fibrosis regression with sebelipase alfa therapy.

Long-term clinical outcomes in lysosomal acid lipase deficiency: Fibrosis regression with sebelipase alfa therapy.

Journal: Canadian liver journal
Published: May 08, 2025
Showing 1-12 of 499

Last Updated: 01/07/2026