3 documents found, page 1 of 1
Comparison of the mutation spectrum and association with pre and post treatment...
Futema, Marta; Ramaswami, Uma; Tichy, Lukas; Bogsrud, Martin P.; Holven, Kirsten B.; Roeters van Lennep, Jeanine; Wiegman, Albert; Descamps, Olivier S.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 Republi...
Estudo Português de Hipercolesterolemia Familiar: 1999-2020
Medeiros, Ana M.; Alves, Ana C.; Chora, Joana R.; Bourbon, MafaldaA Hipercolesterolemia Familiar (FH) é uma doença genética do metabolismo dos lípidos, para a qual existem métodos de diagnóstico e tratamentos eficazes disponíveis. Em Portugal estima-se que existam entre 20 000–33 000 pessoas com FH (prevalência 1:500–1:300). Indivíduos com FH possuem um elevado risco de desenvolver uma doença cardiovascular prematura (DCV), pois apresentam valores de colesterol elevados desde...
Single versus Multiple Imputation Methods Applied to Classify Dyslipidemic Pati...
Albuquerque, João; Alves, Ana C.; Medeiros, Ana M.; Bourbon, Mafalda; Antunes, MaríliaIntroduction: One ofthe greatest challenges when working with clinical datasetsisto decide howto deal withmissing values. Removing observations with any missing values priorto data analysis, a process defined aslistwise deletion, is the standard default procedure in most statistical software packages, but may lead to great loss of valuable information [1]. The use of robust imputation methods may provide accura...