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RESEARCH PRODUCT
Additional file 1 of Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey
Laura D’erasmoAntonio GalloAngelo Baldassare CefalùAlessia Di CostanzoSamir SahebAntonina GiammancoMaurizio AvernaAlessio BuonaiutoGabriella IannuzzoGiuliana FortunatoArturo PujaTiziana MontalciniChiara PavanelloLaura CalabresiGiovanni Battista VignaMarco BucciKatia BonomoFabio NotaTiziana SampietroFrancesco SbranaPatrizia SuppressaCarlo SabbàFabio FimianiArturo CesaroPaolo CalabròSilvia PalmisanoSergio D’addatoLivia PisciottaStefano BertoliniRanda BittarOlga KalmykovaSophie BéliardAlain CarriéMarcello ArcaEric Bruckertsubject
nutritional and metabolic diseaseslipids (amino acids peptides and proteins)description
Additional file 1: Table 1. Patients’ genotypes. All mutations were classified according to ACMG guidelines (Chora JR, Medeiros AM, Alves AC, Bourbon M. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis. Genet Med. 2018;20(6):591-598). For 3 Homozygous LDLR and 1 LDLRAP1 causing mutations were not available and the diagnosis was only on clinical base. *Double Heterozygote patient for mutations in both LDLR (c.373C>T) and PCSK9 (c.60_ 65dupGCTGCT) genes.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2021-01-01 |