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Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy

Archive ouverte | Marmontel, O. | CCSD

International audience. Optimal molecular diagnosis of primary dyslipidemia is challenging to confirm the diagnosis, test and identify at risk relatives. The aim of this study was to test the application of a single...

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

Archive ouverte | Di Filippo, M. | CCSD

International audience. BACKGROUND AND AIMS: Abetalipoproteinemia (ABL) is a rare recessive monogenic disease due to MTTP (microsomal triglyceride transfer protein) mutations leading to the absence of plasma apoB-co...

Assessment of three equations to calculate plasma LDL cholesterol concentration in fasting and non-fasting hypertriglyceridemic patients

Archive ouverte | Vasse, J. | CCSD

International audience. OBJECTIVES: Low-density lipoprotein cholesterol (LDL-C) concentration was calculated for many years using the Friedewald equation, but those from Sampson and extended-Martin-Hopkins perform d...

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