Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study

Atherosclerosis

Volumn 248, Issue , 2016, Pages 238-244

  Raal, Frederick J ^a   Sjouke, Barbara ^b   Hovingh, G Kees ^b   Isaac, Barton F ^c  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c GENZYME CORPORATION   (United States)

Author keywords

Cholesterol; Familial hypercholesterolaemia; Lipoproteins

Indexed keywords

ATORVASTATIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; MIPOMERSEN; ROSUVASTATIN; HYPOCHOLESTEROLEMIC AGENT; OLIGONUCLEOTIDE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; COHORT ANALYSIS; CORONARY ARTERY ATHEROSCLEROSIS; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; HOMOZYGOTE; HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA; HUMAN; LDLR GENE; MAJOR CLINICAL STUDY; MULTICENTER STUDY (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PHENOTYPIC VARIATION; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); RECEPTOR GENE; ALLELE; CLINICAL TRIAL; CONTROLLED STUDY; DNA MUTATIONAL ANALYSIS; DOUBLE BLIND PROCEDURE; GENETICS; HYPERLIPOPROTEINEMIA TYPE II; INFANT; INTERNATIONAL COOPERATION; METABOLISM; MIDDLE AGED; MULTICENTER STUDY; MUTATION; PHASE 3 CLINICAL TRIAL; PHENOTYPE; PRESCHOOL CHILD; RANDOMIZED CONTROLLED TRIAL; REGISTER; RETROSPECTIVE STUDY; STATISTICAL ANALYSIS; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ALLELES; ANTICHOLESTEREMIC AGENTS; CHILD; CHILD, PRESCHOOL; CHOLESTEROL, LDL; COHORT STUDIES; DATA INTERPRETATION, STATISTICAL; DNA MUTATIONAL ANALYSIS; DOUBLE-BLIND METHOD; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INFANT; INTERNATIONAL COOPERATION; MIDDLE AGED; MUTATION; OLIGONUCLEOTIDES; PHENOTYPE; RECEPTORS, LDL; REGISTRIES; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84962602744     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2016.03.009     Document Type: Article

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