Associated Papers
Recent insights into lysosomal acid lipase deficiency.
Korbelius M et al.
Trends in Molecular Medicine, 2023
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies.
Vijay S et al.
Orphanet Journal of Rare Diseases, 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
31180157 (PubMed )
Supplement: HUMU-40-2007-s001.xlsx › Supplementary_Table_1
Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children.
Leuzinger Dias C et al.
Ge Portuguese Journal of Gastroenterology, 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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
Scott SA et al.
Hepatology (baltimore, Md.), 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
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