Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis

Clinical Genetics

Volumn 81, Issue 1, 2012, Pages 24-28

  Huijgen, R ^a   Stork, A D M ^a   Defesche, J C ^a   Peter, J ^a   Alonso, R ^b   Cuevas, A ^c   Kastelein, J J P ^a   Duran, M ^a   Stroes, E S G ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^c CLÍNICA LAS CONDES   (Chile)

Author keywords

Cerebrotendinous; Cholestanol; Familial hypercholesterolemia; LDL cholesterol; Xanthoma; Xanthomatosis

Indexed keywords

ATORVASTATIN; CHENODEOXYCHOLIC ACID; LOW DENSITY LIPOPROTEIN RECEPTOR; SIMVASTATIN; STEROL 27 HYDROXYLASE;

ADULT; ARTICLE; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; DISEASE COURSE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; XANTHOMATOSIS;

EID: 83355173945     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01793.x     Document Type: Article

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