Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.
BACKGROUND AND AIMS: Familial hypercholesterolaemia (FH) is commonly caused by mutations in the LDLR, APOB or PCSK9 genes, with untreated mean low density lipoprotein-cholesterol (LDL-C) concentrations being elevated in APOB mutation carriers, even higher in LDLR mutation and highest in those with a PCSK9 mutation. Here we examine this in children with FH from Norway, UK, The Netherlands, Belgium, Czech Republic, Austria, Portugal and Greece. METHODS: Differences in characteristics and pre- and post-treatment lipid concentrations in those with different molecular causes were compared by standa... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2021 |
Verlag/Hrsg.: |
Elsevier
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Schlagwörter: | Austria / Belgium / Child / Czech Republic / DNA Mutational Analysis / Europe / Greece / Humans / Hyperlipoproteinemia Type II / Lipids / Mutation / Netherlands / Norway / Portugal / Proprotein Convertase 9 / Receptors / LDL / Heterozygous familial hypercholesterolaemia / LDL-C concentrations / Mutation spectrum / Statin treatment |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27215859 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://hdl.handle.net/2078.1/261190 |