Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/3849
Título: Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipase Deficiency Patients?
Autor: Chora, J.R.
Alves, A.C.
Medeiros, A.M.
Mariano, C.
Lobarinhas, G.
Guerra, A.
Mansilha, H.
Bourbon, Mafalda
Palavras-chave: Doenças Cardio e Cérebro-vasculares
Familial Hypercholesterolaemia
Data: Mai-2016
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: 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.
URI: http://hdl.handle.net/10400.18/3849
Aparece nas colecções:DPSPDNT - Posters/abstracts em congressos internacionais



FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Todos os registos no repositório estão protegidos por leis de copyright, com todos os direitos reservados.