Associated Papers
Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.
Pritchard AB et al.
Orphanet Journal of Rare Diseases, 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-s002.xlsx › Supplementary_Table_2
Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.
Aguisanda F et al.
Current Chemical Genomics and Translational Medicine, 2017
Novel mutation in a patient with cholesterol ester storage disease.
Lin P et al.
Case Reports in Genetics, 2015
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