Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency
Author:
Publisher
Elsevier BV
Subject
Gastroenterology,Hepatology
Reference96 articles.
1. Lysosomal acid lipase deficiency—an under-recognized cause of dyslipidaemia and liver dysfunction;Reiner;Atherosclerosis,2014
2. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups;Scott;Hepatology,2013
3. Prevalence of cholesteryl ester storage disease;Muntoni;Arterioscler Thromb Vasc Biol,2007
4. Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD);Muntoni;Hum Genet,1995
5. Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations;Muntoni;Nutr Metab Cardiovasc Dis,2013
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1. Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease;Orphanet Journal of Rare Diseases;2024-06-25
2. The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment;Diagnostics;2024-06-19
3. Expanded genetic testing in familial hypercholesterolemia—A single center's experience;American Journal of Preventive Cardiology;2024-06
4. Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier;Digestive Diseases and Sciences;2024-04-02
5. A 14‐step desensitization protocol for sebelipase alfa hypersensitivity in a patient with Wolman disease and secondary hemophagocytic lymphohistiocytosis;Pediatric Allergy and Immunology;2024-04
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