Associated Papers
Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature.
Asna Ashari K et al.
Journal of Medical Case Reports, 2023
A Rare Image of Liver Steatosis - Acid Lipase Lysosomal Deficiency.
Calian I et al.
Journal of Gastrointestinal and Liver Diseases : Jgld, 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
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
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