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Cerebrotendinous xanthomatosis


A Federico, MT Dotti, JD Fleck - Neurology, 2001 - AAN Enterprises
Page 1. 2001;57;1743 Neurology Antonio Federico, Maria Teresa Dotti and James
D. Fleck Cerebrotendinous xanthomatosis This information ...
Cited by 25 - Related articles - BL Direct - All 5 versions

[PDF] Ocular and systemic manifestations of cerebrotendinous xanthomatosis


JRM Cruysberg, RA Wevers, BGM Van Engelen … - American journal of ophthalmology, 1995 - repository.ubn.ru.nl
TABLE CATARACT AND SYSTEMIC FEATURES OF CEREBROTENDINOUS XANTHOMATOSIS ■ATIENT
NO., AGE AT PEDIGREE, DEATH GENDER (YnS) MAJOR SIGNS OF THE SYNDROME AGE AT
WHICH SYMPTOMS WERE DOCUMENTED (YFI8) AGE AT DIAGNOSIS <vns) 1, A-1, F 48 ...
Cited by 21 - Related articles - BL Direct - All 6 versions

Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of …


MT Dotti, A Rufa, A Federico - Journal of inherited metabolic disease, 2001 - Springer
Summary: Cerebrontendinous xanthomatosis (CTX) is a rare autosomal recessive
neurometabolic disease involving lipid metabolism. The classical phenotype is
characterized by neurological dysfunction, tendon xanthomas and juvenile ...
Cited by 16 - Related articles - BL Direct - All 5 versions

A case of cerebrotendinous xanthomatosis. II: The sterol content of a cataractous lens.

- nih.gov [PDF] 
P McKenna, SJ Morgan, RC Bosanquet, MF … - British Medical Journal, 1990 - bjo.bmj.com
Abstract The cholestanol content of a cataractous lens nucleus from a patient
with cerebrotendinous xanthomatosis (CTX) was quantified by gas
chromatography-mass spectrometry andfound to be 027 [ig per mg freeze-dried ...
Cited by 4 - Related articles - All 6 versions

[CITATION] Dr. Gülçin ALTINOK1, Dr. Aytaç GÖKÖZ1, Dr. Eser YÜKSEL2 Hacettepe Üniversitesi Tıp …


S Ksantomatozis
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Vol 27, N 1-janvier 2003


R AVANCÉE, L Golli, J Taïeb, E Boleslawski, … - masson.fr
Chez les mammifères, le cholestérol est le stérol principal, indispensable à
l'intégrité même de la membrane cellulaire et précurseur de molécules
biologiquement importantes comme les hormones stéroïdes, la vitamine D et ...
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