Cholesteryl Ester Storage Disease Latest Advances

Find the Latest Research About Cholesteryl Ester Storage Disease

Last Updated: 09/26/2026

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Found 509 publications

Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis.

Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis.

Journal: Frontiers in pediatrics

Published: July 10, 2026

Lipid profile in pediatric and adult patients with lysosomal acid lipase deficiency treated with sebelipase alfa: longitudinal evidence from the International LAL-D Registry.

Lipid profile in pediatric and adult patients with lysosomal acid lipase deficiency treated with sebelipase alfa: longitudinal evidence from the International LAL-D Registry.

Journal: Atherosclerosis

Published: March 27, 2026

Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single-center experience.

Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single-center experience.

Journal: Frontiers in pediatrics

Published: March 19, 2026

Liver-specific gene therapy based on self-complementary adeno-associated virus for lysosomal acid lipase deficiency.

Liver-specific gene therapy based on self-complementary adeno-associated virus for lysosomal acid lipase deficiency.

Journal: Frontiers in pharmacology

Published: March 04, 2026

Bilateral Adrenal Calcifications as an Imaging Clue to Wolman Disease in Early Infancy: A Case Report.

Bilateral Adrenal Calcifications as an Imaging Clue to Wolman Disease in Early Infancy: A Case Report.

Journal: Cureus

Published: February 16, 2026

Two cases of late-onset lysosomal acid lipase deficiency with Achilles tendon thickening.

Two cases of late-onset lysosomal acid lipase deficiency with Achilles tendon thickening.

Journal: Journal of clinical lipidology

Published: February 12, 2026

Cholesteryl ester storage disease-a rare case of elevated liver enzymes and cholesterol levels with similarities to familial hypercholesterolaemia: a case report.

Cholesteryl ester storage disease-a rare case of elevated liver enzymes and cholesterol levels with similarities to familial hypercholesterolaemia: a case report.

Journal: European heart journal. Case reports

Published: December 18, 2025

Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.

Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.

Journal: Nutrients

Published: October 17, 2025

Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France.

Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France.

Journal: Advances in therapy

Published: October 06, 2025

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

Showing 1-12 of 509

Last Updated: 09/26/2026