Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: Prevalence, genotype-phenotype relationship, and clinical outcome

European Heart Journal

Volumn 36, Issue 9, 2015, Pages 560-565

  Sjouke, Barbara ^a   Kusters, D Meeike ^a   Kindt, Iris ^b   Besseling, Joost ^a   Defesche, Joep C ^a   Sijbrands, Eric J G ^c   Van Lennep, Jeanine E Roeters ^c   Stalenhoef, Anton F H ^d   Wiegman, Albert ^a   De Graaf, Jacqueline ^d   Fouchier, Sigrid W ^a   Kastelein, John J P ^a   Hovingh, G Kees ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b Foundation for the Identification of Persons with Inherited Hypercholesterolemia   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Autosomal dominant hypercholesterolemia; Familial hypercholesterolaemia; Homozygous; Phenotype; Prevalence

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; APOB PROTEIN, HUMAN; APOLIPOPROTEIN B100; LDLR PROTEIN, HUMAN; PCSK9 PROTEIN, HUMAN; SERINE PROTEINASE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARDIOVASCULAR DISEASE; CLINICAL ARTICLE; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HOMOZYGOUS AUTOSOMAL DOMINANT HYPERCHOLESTEROLAEMIA; HUMAN; HYPERCHOLESTEROLEMIA; MALE; MEDICAL RECORD; MOLECULAR DIAGNOSIS; NETHERLANDS; PREVALENCE; PRIORITY JOURNAL; ADOLESCENT; CARDIOVASCULAR DISEASES; CHILD; COHORT ANALYSIS; GENETICS; HYPERLIPOPROTEINEMIA TYPE II; INFANT; MIDDLE AGED; MUTATION; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PROGNOSIS; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; APOLIPOPROTEIN B-100; CARDIOVASCULAR DISEASES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; NETHERLANDS; PHENOTYPE; PREVALENCE; PROGNOSIS; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES; YOUNG ADULT;

EID: 84924366648     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehu058     Document Type: Article

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