Associated Papers
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.
Yang S et al.
Archives of Pharmacal Research, 2023
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
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
Santillán-Hernández Y et al.
World Journal of Gastroenterology, 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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