Autosomal dominant hypercholesterolemia in Catalonia : Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting
Background: Autosomal dominant hypercholesterolemia (ADH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes, and it is estimated to be greatly underdiagnosed. The most cost-effective strategy for increasing ADH diagnosis is a cascade screening from mutation-positive probands. Objective: The objective of this study was to evaluate the results from 2008 to 2016 of ADH genetic analysis performed in our clinical laboratory, serving most lipid units of Catalonia, a Spanish region wit... Mehr ...
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Dokumenttyp: | Estudi clínic |
Erscheinungsdatum: | 2018 |
Schlagwörter: | Cardiovascular risk / Dutch Lipid Clinic Network score / Familial hypercholesterolemia / Molecular diagnosis / Polygenic hypercholesterolemia |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26663414 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://ddd.uab.cat/record/270427 |