A338 LYSOSOMAL ACID LIPASE DEFICIENCY (LAL-D): FROM DIAGNOSIS TO THERAPY IN CANADA

BACKGROUND: Lysosomal Acid Lipase (LAL-D) deficiency is an ultra-rare lysosomal storage disorder. Clinical features in the late-onset form include dyslipidemia (elevated LDL, low HDL), elevated liver enzymes, hepatomegaly, and splenomegaly. This can progress to liver fibrosis and cirrhosis. LAL-D is...

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Detalles Bibliográficos
Publicado en:J Can Assoc Gastroenterol
Autores principales: Ashok, D, Prasad, C, Walsh, J, Colaiacovo, S, Rupar, T
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2018
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Paper Sessions
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6508349/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jcag/gwy009.338
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