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Pathogenesis and treatment of xanthomatosis associated with monoclonal gammopathy.

R Szalat, B Arnulf, L Karlin, M Rybojad, B Asli… - Blood, 2011 - ncbi.nlm.nih.gov
Xanthomas are a common manifestation of lipid metabolism disorders. They include hyperlipemic
xanthoma (HX), normolipemic xanthoma (NX) and a related condition, necrobiotic xanthogranuloma
(NXG). All three forms can be associated with monoclonal immunoglobulin (MIg). In an ...

Cerebrotendinous Xanthomatosis: A Treatable Disease With Juvenile Cataracts as a Presenting Sign

DM Monson, AE DeBarber, CJ Bock… - Archives of …, 2011 - Am Med Assoc
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid
synthesis. 1 At least 50 different causative mutations have been identified in the CYP27A1 gene
encoding for a sterol 27-hydroxylase important in bile acid synthesis. 2 Sterol 27- ...

Clinical Relevance of Brain Volume Changes in Patients with Cerebrotendinous Xanthomatosis

[PDF] from peerproject.euN De Stefano, S Guerrera, ML Stromillo, A Mignarri… - 2011 - repository.peerproject.eu
S. Guerrera*#, MD, ML Stromillo*, MD, A. Mignarri*, MD, M. Battaglini*, PhD, S. Marino#, MD,
C. Di Perri*, MD, A. Federico*, MD, MT Dotti*, MD and N. De Stefano*, MD/ ... *Dept. of Neurological
and Behavioural Sciences, Italy #IRCCS Centro Neurolesi “Bonino Pulejo”, Messina, Italy
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Visualisation of treatment response in a case of cerebrotendinous xanthomatosis

S Seidel, G Kasprian, D Prayer… - Journal of Neurology, …, 2011 - jnnp.bmj.com
Contributors SS: preparation of the final manuscript; GK: diffusion tensor imaging, preparation
of the final manuscript; MK: spectroscopy data; TS: discussion; EA: discussion. ... Cerebrotendinous
xanthomatosis (CTX) is an autosomal recessive disease due to mutations in the ...
Related articles - All 3 versions

Monitoring of 7 [alpha]-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report

S Matysik, E Orso, A Black, N Ahrens… - Chemistry and Physics of …, 2011 - Elsevier
Cerebrotendinous xanthomatosis (CTX) is a rare, inherited autosomal-recessive lipid-storage
disorder caused by 27-hydroxylase deficiency. In this study, we report of a 30-year old man with
this disorder who was treated using chenodeoxycholic acid, simvastatin, and low-density ...
All 2 versions

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