A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-019-01267-4
Abstract: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive defect of the alternative pathway of bile acid biosynthesis, due to the deficiency of mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 . The deficit of sterol… read more here.
Keywords: cyp27a1; involvement; cerebrotendinous xanthomatosis; tendon xanthomas ... See more keywords
Achilles tendon xanthomas are associated with the presence and burden of subclinical coronary atherosclerosis in heterozygous familial hypercholesterolemia: A pilot study.
Sign Up to like & getrecommendations! Published in 2017 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2017.04.025
Abstract: BACKGROUND AND AIMS Achilles tendon xanthomas (ATX) are a sign of long-term exposure to high blood cholesterol in familial hypercholesterolemia (FH) patients, which have been associated with cardiovascular disease. We evaluated the ATX association with… read more here.
Keywords: presence; tendon xanthomas; coronary atherosclerosis; achilles tendon ... See more keywords