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https://hdl.handle.net/2445/184941
Title: | Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): establishment of an FCS clinical diagnostic score |
Author: | Moulin, Philippe Dufour, Robert Averna, Maurizio Arca, Marcello Cefalù, Angelo B. Noto, Davide D'Erasmo, Laura Di Costanzo, Alessia Marçais, Christophe Alvarez-Sala Walther, Luis Antonio Banach, Maciej Borén, Jan Cramb, Robert Gouni-Berthold, Ionna Hughes, Elizabeth Johnson, Colin Pintó Sala, Xavier Reiner, eljko Roeters Van Lennep, Jeanine Soran, Handrean Stefanutti, Claudia Stroes, Erik Bruckert, Eric |
Keywords: | Malalties hereditàries Diagnòstic Malalties rares Genetic diseases Diagnosis Rare diseases |
Issue Date: | 27-Oct-2018 |
Publisher: | Elsevier |
Abstract: | Data presented in this article are supplementary material to our article entitled "Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recom mendations and proposal of an "FCS Score" (Moulin et al., 2018, in press). The data describe the genotypes of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicro naemia syndrome (MCS), from the validation and replication cohorts. |
Note: | Reproducció del document publicat a: https://doi.org/10.1016/j.dib.2018.10.125 |
It is part of: | Data in Brief, 2018, vol. 21, p. 1334-1336 |
URI: | https://hdl.handle.net/2445/184941 |
Related resource: | https://doi.org/10.1016/j.dib.2018.10.125 |
ISSN: | 2352-3409 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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