Associated Papers
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Zhang JH et al.
Digestive Diseases and Sciences, 2024
A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency.
Gürbüz BB et al.
The Turkish Journal of Pediatrics, 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
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
Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report.
Kuranobu N et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2016
Select a paper to view details