Cerebrotendinous xanthomatosis without tendinous xanthomas: Presentation of two cases;Xantomatosis cerebrotendinosa sin xantomas tendinosos: Presentación de dos casos

Neurologia

Volumn 17, Issue 10, 2002, Pages 647-650

  Campdelacreua, J ^a   Munoz E ^a   Cervera, A ^a   Jauma S ^b   Giros M ^c   Tolosa, E ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^c Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

Cataracts; Cerebrotendinous xanthomatosis; Spastic paraparesis; Spinal xanthomatosis

Indexed keywords

27 HYDROXYLASE; CHENODEOXYCHOLIC ACID; CHOLESTANOL; LIPOPROTEIN; OXYGENASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; DENTATE NUCLEUS; DISEASE COURSE; ENZYME DEFICIENCY; GENETIC DISORDER; HUMAN; HYPERLIPOPROTEINEMIA TYPE 2; MALE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHOTOSENSITIVE EPILEPSY; SPASTIC PARAPLEGIA; XANTHOMA;

ADOLESCENT; ADULT; BRAIN; CHILD; CHOLESTANOL; DISEASE PROGRESSION; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; SPINAL CORD; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0036924447     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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