Results 171 to 180 of about 7,684 (214)
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A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis
International Journal of Neuroscience, 2020Purpose of the study Cerebrotendinous xanthomatosis (CTX) is an inherited disorder associated with abnormal deposition of cholestenol in the brain and other tissues. Here we report a Chinese family with two affected members of CTX.
Yi Tang +4 more
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MYELOMATOSIS WITH XANTHOMATOSIS
Annals of Internal Medicine, 1961Excerpt During the last decade considerable attention has been focused on the serum protein aberrations in multiple myeloma.1Little information has been presented, however, regarding the serum lipi...
B, FRAME, M R, PACHTER, R K, NIXON
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Cerebrotendinous Xanthomatosis
The Journal of Dermatology, 1990AbstractA case report on a 23‐year‐old female patient with cerebrotendinous xanthomatosis (CTX) is presented. From 8 years of age, the patient clinically showed multiple xanthoma masses on both knees, both heels, and the nasal bridge, juvenile cataracts, multiple abnormal neurologic dysfunctions, and dementia.
S Y, Hwang, K H, Lee, J I, Ahn
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Dyslipoproteinemia and Xanthomatosis
Pediatric Dermatology, 1984Abstract: The cutaneous markers associated with dyslipoproteinemia are reviewed in the context of the current view of lipid and lipoprotein metabolism. The utility of determining the plasma levels of lipoprotcins and certain apoproteins in children or adults with xanthomas or xanthelasma is discussed.
C, Haber, P O, Kwiterovich
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Multifocal, hypoechogenic nerve thickening in Cerebrotendinous Xanthomatosis.
Clinical Neurophysiology, 2020OBJECTIVE To characterize peripheral nerve morphology in cerebrotendinous xanthomatosis (CTX) patients using high-resolution ultrasound (HRUS) in vivo.
B. Roeben +7 more
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Cerebrotendinous xanthomatosis
Journal of the American Academy of Dermatology, 2001Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene. The accumulation of cholestanol in various tissues characterizes this disease. Diagnosis is based on determination of urinary bile alcohols.
S, Bel +6 more
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Türk pediatri arşivi, 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 xanthomatosis.
Tanyel Zübarioğlu +6 more
semanticscholar +1 more source
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 xanthomatosis.
Tanyel Zübarioğlu +6 more
semanticscholar +1 more source
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement
Metabolic brain disease, 2021Pelin Teke Kısa +13 more
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Journal of the American Medical Association, 1943
Though xanthomatosis is but a single manifestation of a systemic pathologic condition, only recently has this disturbance in cholesterol metabolism seriously occupied the attention of any one but the dermatologists. Latterly the occurrence of cardiovascular involvement with cutaneous xanthomatosis has likewise been noted by the internists,1but because ...
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Though xanthomatosis is but a single manifestation of a systemic pathologic condition, only recently has this disturbance in cholesterol metabolism seriously occupied the attention of any one but the dermatologists. Latterly the occurrence of cardiovascular involvement with cutaneous xanthomatosis has likewise been noted by the internists,1but because ...
openaire +1 more source