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
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
A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.
Kim KY et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2017
Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.
Aguisanda F et al.
Current Chemical Genomics and Translational Medicine, 2017
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