A boy with autosomal recessive hypercholesterolaemia

Netherlands Journal of Medicine

Volumn 62, Issue 3, 2004, Pages 89-93

  Rodenburg, J ^a   Wiegman, A ^a   Vissers, M N ^a   Kastelein, J J P ^a   Stalenhoef, A F H ^b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; ANTILIPEMIC AGENT; ATORVASTATIN; EZETIMIBE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PHOSPHOTYROSINE; PRAVASTATIN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BINDING SITE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CONCENTRATION (PARAMETERS); CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; DRUG RESPONSE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXERCISE TEST; FAMILIAL HYPERCHOLESTEROLEMIA; HEART MUSCLE PERFUSION; HOMOZYGOSITY; HUMAN; INTERNALIZATION; ISCHEMIA; LIVER PARENCHYMA; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; SCHOOL CHILD; SPORT; THORAX PAIN; XANTHOMA; BLOOD; CHILD; CHROMOSOME DISORDER; GENETICS; HYPERLIPOPROTEINEMIA TYPE 2; JUVENILE XANTHOGRANULOMA; MUTATION; RECESSIVE GENE;

CHILD; CHOLESTEROL, LDL; CHROMOSOME DISORDERS; GENES, RECESSIVE; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MUTATION; PRAVASTATIN; RECEPTORS, LDL; XANTHOGRANULOMA, JUVENILE;

EID: 3342978239     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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