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-s002.xlsx › Supplementary_Table_2
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.
Cappuccio G et al.
Journal of Inherited Metabolic Disease, 2019
Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.
Dardis A et al.
Genes, 2018
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
Lysosomal acid lipase deficiency in Brazilian children: a case series.
Benevides GN et al.
Jornal De Pediatria, 0
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