Associated Papers
Genetics and regulation of HDL metabolism.
Kardassis D et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2022
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: review of the findings in 135 reported patients with an underdiagnosed disease.
Bernstein DL et al.
Journal of Hepatology, 2013
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