The lysosomal acid lipase deficiency spectrum from infancy to adulthood: a multidisciplinary experience
LAL-D mimics hyperlipidemias and liver disorders making a definitive diagnosis mandatory. Patients with CESD presentation should benefit from first level treatment with LLT before considering ERT which represents the option in case of unresponsiveness or symptoms progression while it represents the elective therapy for WD.
Authors
- Luisa De Sanctis (ORCID: https://orcid.org/0000-0003-2113-6196)
- Ornella Guardamagna (ORCID: https://orcid.org/0000-0003-3137-5916)
- Giulia Massini
- Maria Donata Di Taranto (ORCID: https://orcid.org/0000-0002-0618-7940)
- Riccardo Faletti (ORCID: https://orcid.org/0000-0002-8865-8637)
- Angelo Armandi (ORCID: https://orcid.org/0000-0002-7245-4445)
- Raffaele Buganza (ORCID: https://orcid.org/0000-0003-1850-2300)
Institutions
- CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
- Ospedale Regina Margherita (IT)
- University of Turin (IT)
Publication Details
- Journal
- Nutrition Metabolism and Cardiovascular Diseases
- Published
- 2025-08-09
- DOI
- https://doi.org/10.1016/j.numecd.2025.104277
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00