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 ...
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- ...
[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 Related articles
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
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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