Associated Papers
Clinical and Histologic Liver Improvement in Siblings With Lysosomal Acid Lipase Deficiency After Enzyme Replacement.
Lyons H et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.
Cappuccio G et al.
Journal of Inherited Metabolic Disease, 2019
Lysosomal acid lipase deficiency in all siblings of the same parents.
Maciejko JJ et al.
Journal of Clinical Lipidology, 0
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