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• W2155484212 abstract "In this paper we show that cultured chorionic villous fibroblasts efficiently catalyse the peroxisomal β-oxidation of hexacosanoic acid (cerotic acid), a saturated very long chain fatty acid containing 26 carbon atoms. Hexacosanoic β-oxidation was found to be strongly impaired in cultured chorionic villous fibroblasts from a Zellweger foetus. This finding indicates that measurement of peroxisomal β-oxidation can be used (in addition to measurement of acyl-CoA : dihydroxyacetone phosphate acyltransferase, de novo plasmalogen biosynthesis, the amount of particle-bound catalase and phytanic acid oxidase) for prenatal diagnosis in the first trimester of Zellweger syndrome, infantile Refsum disease and neonatal adrenoleukodystrophy. The method should be equally applicable to the early prenatal diagnosis of disorders in which there is a deficiency of a single peroxisomal β-oxidation enzyme. Such diseases include X-linked adrenoleukodystrophy (peroxisomal very long chain fatty acyl CoA ligase deficiency), ‘ pseudo-Zellweger syndrome’ (peroxisomal 3-oxoacyl-CoA thiolase deficiency) and ‘pseudo-neonatal adrenoleukodystrophy’ (acyl-CoA oxidase deficiency)." @default.
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• W2155484212 date "1987-06-01" @default.
• W2155484212 modified "2023-10-16" @default.
• W2155484212 title "Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26 : 0) β-oxidation in cultured chorionic villous fibroblasts: Implications for early diagnosis of other peroxisomal disorders" @default.
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• W2155484212 doi "https://doi.org/10.1016/0009-8981(87)90175-6" @default.
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