Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.G180Splc
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LIPA

NM_000235.4:p.G180Splc

Associated Papers

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

MacDonald M et al.

Canadian Liver Journal, 2025

Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies.

Vijay S et al.

Orphanet Journal of Rare Diseases, 2021

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.

Santillán-Hernández Y et al.

World Journal of Gastroenterology, 2015

Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.

Guénard F et al.

Obesity (silver Spring, Md.), 2012

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

Chora JR et al.

Journal of Clinical Lipidology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."