Publication
Genetics of the monogenic forms of dyslipidaemia
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2019-07-10T10:46:10Z | |
| dc.date.available | 2019-07-10T10:46:10Z | |
| dc.date.issued | 2019-01 | |
| dc.description.abstract | Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with high levels of LDL-c and premature CHD (pCHD). Identification of FH in pediatric age is essential for a timely diagnosis and management. This study aims to highlight the importance of FH diagnosis in children. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6432 | |
| dc.language.iso | eng | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.subject | Sitosterolaemia | pt_PT |
| dc.subject | Portuguese FH study | pt_PT |
| dc.subject | Personalized Medicine | pt_PT |
| dc.subject | Dyslipidaemia | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Genetics of the monogenic forms of dyslipidaemia | pt_PT |
| dc.title.alternative | Genética das formas familiares de dislipedemia | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Braga, Portugal | pt_PT |
| oaire.citation.title | 70,ª Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo (SPEDM) e do Congresso Português de Endocrinologia, 24-27 janeiro 2019 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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