Associated Papers
Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.
Pasta A et al.
Pharmacology Research & Perspectives, 2021
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
Del Angel G et al.
Human Mutation, 2019
Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.
Aguisanda F et al.
Current Chemical Genomics and Translational Medicine, 2017
Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.
Reynolds T
Journal of Clinical Pathology, 2013
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
Bernstein DL et al.
Journal of Hepatology, 2013
A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.
Hooper AJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
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