Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation

Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation

Lysosomal acid lipase deficiency is a poorly diagnosed genetic disorder, leading to accumulation of cholesterol esters and triglycerides in the liver, with progression to chronic liver disease, dyslipidemia, and cardiovascular complications. Lack of awareness on diagnosis of this condition may hampe...

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Bibliographic Details
Main Authors: Marlone Cunha-Silva, Daniel F.C. Mazo, Bárbara R. Corrêa, Tirzah M. Lopes, Raquel C. Arrelaro, Gabriel L. Ferreira, Marcello I. Rabello, Tiago Sevá-Pereira, Cecilia A.F. Escanhoela, Jazon R.S. Almeida
Format: Article
Language:English
Published: Elsevier 2019-01-01
Series:Annals of Hepatology
Subjects:
Cholesterol ester storage disease
Intrahepatic calcifications
Liver steatosis
Sebelipase alfa
Enzyme replacement
Online Access:http://www.sciencedirect.com/science/article/pii/S166526811930328X

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http://www.sciencedirect.com/science/article/pii/S166526811930328X

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