Publication
Familial hypercholesterolemia [CHAPTER 17]
| dc.contributor.author | Chora, Joana Rita | |
| dc.contributor.author | Medeiros, Ana Margarida | |
| dc.contributor.author | Alves, Ana Catarina | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2022-10-31T11:44:50Z | |
| dc.date.available | 2022-10-31T11:44:50Z | |
| dc.date.issued | 2021-02-27 | |
| dc.description | Translational and Applied Genomics Series | pt_PT |
| dc.description.abstract | Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism, with a heterozygous frequency of 1/250e1/500 in most of the European countries. Clinically FH is characterized by elevated concentrations of plasma cholesterol that accumulates in arteries and tendons from birth leading to premature coronary heart disease (pCHD). (...) | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | In: Lázaro C, Lerner-Ellis J, Spurdle A (eds). Clinical DNA Variant Interpretation: Theory and Practice. Elsevier/Academic Press, 2021, pp. 323-348. | pt_PT |
| dc.identifier.eissn | 978-0-12-820520-4 | |
| dc.identifier.isbn | 978-0-12-820519-8 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/8273 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Elsevier | pt_PT |
| dc.relation.publisherversion | https://www.elsevier.com/books/clinical-dna-variant-interpretation/patrinos/978-0-12-820519-8 | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.subject | Hipercolesterolemia Familiar | pt_PT |
| dc.subject | Colesterol | pt_PT |
| dc.subject | e_COR | pt_PT |
| dc.subject | Estudo da Prevalência de Fatores de Risco Cardiovasculares na População Portuguesa | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.subject | Portugal | pt_PT |
| dc.title | Familial hypercholesterolemia [CHAPTER 17] | pt_PT |
| dc.type | book part | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 348 | pt_PT |
| oaire.citation.startPage | 323 | pt_PT |
| oaire.citation.title | Clinical DNA Variant Interpretation | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | bookPart | pt_PT |
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