Results 91 to 100 of about 6,190 (205)
A Case of Cerebrotendinos Xanthomatosis
, 1998 Cerebrotendinous Xanthomatosis is a rare inherited autosomal recessive disorder characterized by an increased plasma cholestanol level and the accumulation of sterol in tendon and nervous system.
신지철, 김용욱, 박창일
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, 2019 Aim: The primary purpose of the present study is to evaluate the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous ...
Cansever, Mehmet Serif +6 more
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Segmental xanthomatosis of the small intestine. A case report and review of the literature
, 2009 Intestinal xanthomatosis is a rare, nonneoplastic lesion that may involve the small bowel in a localized or generalized way. It most probably represents a nonspecific response to a previous injury. Most cases are not suspected clinically.
Takahashi, Hidenori +4 more
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Miscellaneous non-inflammatory musculoskeletal conditions. Rare thesaurismosis and xanthomatosis.
, 2011 International audienceThe focus will be on xanthomatosis, a tissue danger signal which needs to be recognized by the clinician, and its relationship with monogenetic lipoprotein disorders (cholesterol, triglycerides), bile acid and sterol metabolism ...
Pascal Guggenbuhl +5 more
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Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient
, 2020 Cerebrotendinous xanthomatosis (CTX) is a rare genetic metabolic disorder that inherited in an autosomal recessive trait; characterized by abnormal lipid storage.
Dikbas, Oguz +4 more
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Revista Médica Electrónica, 2010 Los xantomas constituyen tumores cutáneos, y se presentan por depósitos de lipoproteínas en los macrófagos tisulares. Clínicamente se manifiestan como lesiones papulosas o nodulares de color amarillento, estando relacionada su distribución con las ...
Tamara M Pérez Martell +3 more
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Magnetic resonance imaging of cerebrotendinous xanthomatosis
, 1995 Cerebrotendinous xanthomatosis is a rare familial sterol storage disease with accumulation of cholestanol and cholesterol particularly in xanthomas, bite and brain. Magnetic resonance imaging is a useful modality for imaging the affected tissues.
Brockwell, J +4 more
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Atypical xanthomatosis in apolipoprotein E-deficient mice after cholesterol feeding
, 1995 Apolipoprotein (apo) E-deficient mice were fed a hypercholesterolemic diet for 14 weeks. Mean serum cholesterol levels rose to 37.5 mM. Upon complete necroscopy, massive xanthomatous lesions were noticed in various tissues, with a predilection for ...
Ree, J.H. van +4 more
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