Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism
References (24)
- et al.
Cerebrotendinous Xanthomatosis
- et al.
Effect of 25-hydroxy-vitamin D3 on vitamin D metabolites in primary biliary cirrhosis
Gastroenterology
(1981) - et al.
Osteoporosis in primary biliary cirrhosis: effects of 25-dihydroxyvitamin D3 treatment
Gastroenterology
(1982) - et al.
Quantitative analysis of the mitochondrial cytochrome P-450-linked monooxygenase system: NADPH-hepatoredoxin reductase, hepatoredoxin and cytochrome P-450 S 27 in livers of patients with cerebrotendinous xanthomatosis
Clin. Chim. Acta
(1986) - et al.
Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis
Biochem. Med.
(1975) - et al.
Long term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
N. Engl. J. Med.
(1984) - et al.
Familial diseases with storage of sterols other than cholesterol: Cerebrotendinous Xanthomatosis and Phytosterolemia
- et al.
Intestinal absorption of 45Ca in senile osteoporosis
Acta Med. Scand.
(1963) - et al.
Intestinal absorption of calcium-47 after treatment with oral oestrogen-gestogens in senile osteoporosis
Br. Med. J.
(1970) - et al.
Vitamin D, rickets and osteomalacia
Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing
Dev. Neurosci.
(1991)
Peripheral neuropathy in cerebrotendinous xanthomatosis of van Bogaert-Scherer-Epstain: seven cases in two families
Neurology
(1987)
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2020, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic DisordersCerebrotendinous Xanthomatosis
2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth EditionNeurodermatology
2014, Handbook of Clinical NeurologyCitation Excerpt :Pyramidal signs and/or cerebellar signs become evident between the ages of 20 and 30 years. Other clinical manifestations include osteoporosis, bone fractures (Federico et al., 1993), premature arteriosclerosis (myocardial infarction, atherosclerotic aneurysms in coronary arteries), and lung disease (mild pulmonary insufficiency) (Potkin et al., 1988; Segev et al., 1995). Radiology.
Three siblings with Cerebrotendinous Xanthomatosis: A novel mutation in the CYP27A1 gene
2012, European Journal of Medical GeneticsCitation Excerpt :CTX manifests as tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Systemic manifestations including osteoporosis [3], heart involvement and premature atherosclerosis [4] are often found. Chronic infantile diarrhea [5], due to defective bile acid synthesis, is often the earliest symptoms of CTX.
Copyright © 1993 Published by Elsevier B.V.