Associated Papers
The lysosomal acid lipase deficiency spectrum from infancy to adulthood: a multidisciplinary experience.
Buganza R et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2025
Natural history and management of liver dysfunction in lysosomal storage disorders.
Sen Sarma M et al.
World Journal of Hepatology, 2022
Genetics and regulation of HDL metabolism.
Kardassis D et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2022
Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease.
Rajamohan F et al.
Journal of Lipid Research, 2020
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
Del Angel G et al.
Human Mutation, 2019
31180157 (PubMed )
Supplement: HUMU-40-2007-s001.xlsx › Supplementary_Table_1
Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity.
Vinje T et al.
Human Molecular Genetics, 2019
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.
Cappuccio G et al.
Journal of Inherited Metabolic Disease, 2019
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.
Carter A et al.
Journal of Hepatology, 2019
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Pisciotta L et al.
Atherosclerosis, 2017
Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.
Rajamohan F et al.
Protein Expression and Purification, 2015
Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.
Reynolds T
Journal of Clinical Pathology, 2013
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.
Fasano T et al.
Molecular Genetics and Metabolism, 2012
Select a paper to view details