Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipase Deficiency Patients?

Aims: Lisosomal Acid Lipase Deficiency (LALD), historical known as Cholesterol Ester Storage Disease (CESD), is an autosomal lisosomal storage recessive disorder and an unrecognized cause of dyslipidaemia. Mutations in LIPA gene are the underlying cause of LALD, being a mutation in the splice site o...

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Bibliographic Details
Main Author: Chora, J.R. (author)
Other Authors: Alves, A.C. (author), Medeiros, A.M. (author), Mariano, C. (author), Lobarinhas, G. (author), Guerra, A. (author), Mansilha, H. (author), Bourbon, Mafalda (author)
Format: conferenceObject
Language:eng
Published: 2018
Subjects:
Doenças Cardio e Cérebro-vasculares
Familial Hypercholesterolaemia
Online Access:http://hdl.handle.net/10400.18/3849
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3849
Description
Summary:Aims: Lisosomal Acid Lipase Deficiency (LALD), historical known as Cholesterol Ester Storage Disease (CESD), is an autosomal lisosomal storage recessive disorder and an unrecognized cause of dyslipidaemia. Mutations in LIPA gene are the underlying cause of LALD, being a mutation in the splice site of exon 8 the most common cause of the disease. Patients with LALD present dyslipidaemia and altered liver function. The aim of this work was to analyze LIPA gene in patients with unexplained dyslipidaemia.

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