Publication
Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipase Deficiency Patients?
| dc.contributor.author | Chora, J.R. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Mariano, C. | |
| dc.contributor.author | Lobarinhas, G. | |
| dc.contributor.author | Guerra, A. | |
| dc.contributor.author | Mansilha, H. | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2016-06-21T15:32:53Z | |
| dc.date.available | 2018-01-01T01:30:11Z | |
| dc.date.issued | 2016-05 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.sponsorship | AM Medeiros was funded by BRJ-DPS/2012; C Mariano was funded by SFRH/BD/52494/2014. Project funding was obtained from Synageva BioPharma (which was acquired by Alexion Pharmaceuticals, Inc. June 2015). | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/3849 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.subject | Familial Hypercholesterolaemia | pt_PT |
| dc.title | Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipase Deficiency Patients? | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Innsbruck, Austria | pt_PT |
| oaire.citation.title | 84th Congress of the European Atherosclerosis Society (EAS 2016), May 29-1June 2016 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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