Year
2026
Authors
DE POUVOURVILLE Gérard, Lacaille Florence, Marguet Sophie, Rascon Velasco Vanessa, Hasanova Reyhan, Amri Ekbel, Chevrou-Severac Hélène, Abel Florian, Ratziu Vlad, Feillet François
Abstract
Lysosomal acid lipase deficiency (LAL-D) is a rare inherited lysosomal storage disease leading to accumulation of lipids in organs and tissues. Severity varies from a rapidly progressive infantile form to a less severe, later-onset form. This study aimed to describe patients with LAL-D identified between 2007 and 2020, their treatment, and the burden of disease in France.
LACAILLE, F., MARGUET, S., RASCON VELASCO, V., HASANOVA, R., AMRI, E., CHEVROU-SEVERAC, H. … FEILLET, F. (2026). Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France. Advances in Therapy, 43(5), pp. 2268-2282.