Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings

Journal of Inherited Metabolic Disease

Volumn 24, Issue 7, 2001, Pages 696-706

  Dotti, M T ^a   Rufa, A ^a   Federico, A ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL OBSERVATION; CONTROLLED STUDY; DISEASE ASSOCIATION; EYE DISEASE; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENETIC HETEROGENEITY; HUMAN; MALE; METABOLIC DISORDER; OPTIC DISK ANOMALY; PHENOTYPE; RETINA DEGENERATION;

ADULT; CATARACT; EVOKED POTENTIALS, VISUAL; EYE DISEASES; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; OPHTHALMOSCOPY; OPTIC DISK; OPTIC NERVE DISEASES; PHENOTYPE; RETINAL DISEASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0035663347     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1012981019336     Document Type: Article

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