Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation

Neuroradiology

Volumn 54, Issue 6, 2012, Pages 649-651

  Mignarri, Andrea ^a   Dotti, Maria Teresa ^a   Del Puppo, Marina ^b   Gallus, Gian Nicola ^a   Giorgio, Antonio ^a   Cerase, Alfonso ^c   Monti, Lucia ^c  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

26 HYDROXYCHOLESTEROL; 7ALPHA HYDROXYCHOLEST 4 EN 3 ONE; CHENODEOXYCHOLIC ACID; CHOLEST 4 EN 3 ONE; CHOLESTANETRIOL 26 MONOOXYGENASE; CHOLESTANOL; CHOLINE; CREATININE; INOSITOL; LACTIC ACID; LIPID; N ACETYLASPARTIC ACID; UNCLASSIFIED DRUG;

ADULT; ATAXIA; CASE REPORT; CEREBELLAR VACUOLATION; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL BLOOD LEVEL; COMPUTER ASSISTED TOMOGRAPHY; CYP27A1 GENE; DIARRHEA; DYSARTHRIA; FEMALE; GAIT DISORDER; GENE; GENE MUTATION; HUMAN; LETTER; NERVOUS SYSTEM PARAMETERS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; XANTHOMA;

ADULT; CEREBELLAR DISEASES; FEMALE; FOLLOW-UP STUDIES; HUMANS; MAGNETIC RESONANCE IMAGING; VACUOLES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84862862497     PISSN: 00283940     EISSN: 14321920     Source Type: Journal    
DOI: 10.1007/s00234-012-1026-8     Document Type: Letter

References (6)

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