Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up

Saudi Medical Journal

Volumn 28, Issue 7, 2007, Pages 1113-1118

  Price Evans, David A ^a   Salah, Kawther A ^b   Mobrad, Mashael A ^a   Mitchell, William D ^d   Olin, Maria ^c   Eggertsen, Gosta ^c  

^a Prince Sultan Military Medical City   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26 MONOOXYGENASE; CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LIPID; STEROL; CYP27A1 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ACHILLES TENDINITIS; ADULT; AGGRESSION; ARTICLE; ATAXIA; BEHAVIOR DISORDER; BIOCHEMISTRY; CASE REPORT; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL BLOOD LEVEL; CONSANGUINEOUS MARRIAGE; DIET THERAPY; DNA DETERMINATION; FAMILIAL DISEASE; FEMALE; FOLLOW UP; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPERLIPIDEMIA; LENS IMPLANTATION; LIPID BLOOD LEVEL; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; SAUDI ARABIA; ADOLESCENT; CHILD; GENETICS; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CYTOCHROME P-450 CYP27A1; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; MALE; SAUDI ARABIA; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 34548462894     PISSN: 03795284     EISSN: 16583175     Source Type: Journal    
DOI: None     Document Type: Article

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