Article
Childhood/adult-onset lysosomal acid lipase deficiency: A serious metabolic and vascular phenotype beyond liver disease-four new pediatric cases.
Journal of clinical lipidology - 1 Jan 2000
Poinsot Pierre, Collardeau Frachon Sophie, Restier Lioara, Sérusclat André, Di Filippo Mathilde, Charrière Sybil, Moulin Philippe, Lachaux Alain, Peretti Noel
Abstract excerpt
BACKGROUND: The childhood/adult-onset lysosomal acid lipase deficiency (LALD; late-onset LALD) is a rare genetic disease. Children present severe fatty liver disease with early cirrhosis. Before enzyme replacement therapy, statins were the standard treatment to improve the severe dyslipidemia. However, late-onset LALD should be considered as a systemic metabolic disease: chronic hyper-low-density lipoprotein and...
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