Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management

Autor: Camarena C, Aldamiz-Echevarria LJ, Polo B, Barba Romero MA, García I, Cebolla JJ, Ros E

Publikováno v: MEDICINA CLINICA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. In patients with no enzyme function, th

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