A216 CLINICAL MANIFESTATIONS OF LYSOSOMAL ACID LIPASE DEFICIENCY (LAL-D): THE INTERNATIONAL LAL-D REGISTRY

BACKGROUND: Lysosomal acid lipase deficiency (LAL-D) is a rare, autosomal recessive disease caused by pathogenic variants in the LIPA gene. Lysosomal accumulation of cholesteryl esters and triglycerides leads to cirrhosis and dyslipidemia across a clinical spectrum, and affect both infants and child...

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Publicat a:J Can Assoc Gastroenterol
Autors principals: Francis, M, Balwani, M, Balistreri, W, D’Antiga, L, Fang, S, Jones, S, Ros, E, Abel, F, Wilson, D
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2021
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Poster of Distinction
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7958807/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jcag/gwab002.214
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