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Wiley, Journal of Inherited Metabolic Disease, S2(12), p. 301-304

DOI: 10.1007/bf03335405

Studies in Inherited Metabolic Disease, p. 301-304

DOI: 10.1007/978-94-009-1069-0_34

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Prenatal Diagnosis of Zellweger Syndrome by Direct Visualization of Peroxisomes in Chorionic Villus Fibroblasts by Immunofluorescence Microscopy

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This paper is available in a repository.

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Abstract

Using a technique which makes use of digitonin to selectively permeabilize the cell, we established earlier that in chorionic villus fibroblasts catalase is contained in subcellular particles (peroxisomes) as in skin fibroblasts (Wanders et al., 1986). Based upon this finding was have now developed a sensitive method which allows direct visualization of peroxisomes in cultured chorionic villus fibroblasts by immunofluorescence microscopy using an anti-(catalase) antiserum, thus providing a simple method for prenatal diagnosis of Zellweger syndrome or any of the other peroxisome deficiency disorders.