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RESEARCH PRODUCT
Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score
Ioanna Gouni-bertholdHandrean SoranLaura D'erasmoErik S.g. StroesŽEljko ReinerRobert CrambLuis Antonio Alvarez-sala WaltherMarcello ArcaXavier PintóClaudia StefanuttiMaurizio AvernaRobert DufourColin D. JohnsonJan BorénDavide NotoPhilippe MoulinAlessia Di CostanzoElizabeth HughesEric BruckertC. MarcaisAngelo B. CefalùMaciej BanachJeanine E. Roeters Van Lennepsubject
Settore MED/09 - Medicina InternadiagnosisMEDLINE030209 endocrinology & metabolism030204 cardiovascular system & hematologyBioinformaticslcsh:Computer applications to medicine. Medical informatics03 medical and health sciencesfamilial chylomicronaemia syndrome diagnostic score0302 clinical medicineDiagnòsticDiagnosisMalalties hereditàriesscoreMedicinelcsh:Science (General)Genetics Genomics and Molecular BiologyMultidisciplinarybusiness.industryfamilial chylomicronaemia syndrome (FCS) multifactorial chylomicronaemia syndrome (MCS) diagnosis scorefamilial chylomicronaemia syndrome (FCS)Rare diseaseslcsh:R858-859.7lipids (amino acids peptides and proteins)Malalties rareschylomicronaemia syndrome ; multifactorial chylomicronaemia syndromebusinessmultifactorial chylomicronaemia syndrome (MCS)Genetic diseaseslcsh:Q1-390description
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2018-12-01 | Data in Brief |