Cerebrotendinous xanthomatosis: A treatable genetic disease not to be missed

Journal of Clinical Rheumatology

Volumn 22, Issue 2, 2016, Pages 92-93

  Varman, Katherine Marie ^a   Dunbar, Kristen ^a   Usifo, Katrin ^a   Stevens, Cathy A ^a  

^a UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTANOL; CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26 MONOOXYGENASE; CYP27A1 PROTEIN, HUMAN;

ACHILLES TENDON; AGED; CASE REPORT; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; CYP27A1 GENE; DEMENTIA; FEMALE; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN TISSUE; NOTE; OSTEOPOROSIS; PRIORITY JOURNAL; GENETICS; MUTATION; XANTHOMATOSIS, CEREBROTENDINOUS;

AGED; CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26-MONOOXYGENASE; FEMALE; HUMANS; MUTATION; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84959874372     PISSN: 10761608     EISSN: 15367355     Source Type: Journal    
DOI: 10.1097/RHU.0000000000000367     Document Type: Note

References (5)

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