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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Detalhes bibliográficos
Autor principal: Chora, J.R. (author)
Outros Autores: Alves, A.C. (author), Medeiros, A.M. (author), Mariano, C. (author), Lobarinhas, G. (author), Guerra, A. (author), Mansilha, H. (author), Bourbon, Mafalda (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2018
Assuntos:
Doenças Cardio e Cérebro-vasculares
Familial Hypercholesterolaemia
Texto completo:http://hdl.handle.net/10400.18/3849
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3849

Texto Completo

http://hdl.handle.net/10400.18/3849

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