Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference17 articles.
1. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction;Reiner;Atherosclerosis.,2014
2. Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency;Pericleous;Lancet Gastroenterol. Hepatol.,2017
3. Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up;Demaret;Orphanet. J. Rare. Dis.,2021
4. A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency;Burton;N. Engl. J. Med.,2015
5. Survival in infants treated with sebelipase alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study;Jones;Orphanet. J. Rare. Dis.,2017
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman’s Disease;New England Journal of Medicine;2024-02-15
2. Steht die Aktivität der lysosomalen sauren Lipase in Zusammenhang mit dem Vorliegen und dem Schweregrad einer koronaren Herzkrankheit?;Herz;2023-08-01
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