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There were elevated pipecolic acid levels in plasma, urine and CSF, and abnormal bile acid metabolites in plasma.<\/jats:p><jats:p>Deficient activity of acylCoA: dihydroxyacetone phosphate acyl transferase was found in thrombocytes and fibroblasts of these patients as well as an impaired<jats:italic>de novo<\/jats:italic> plasmalogen biosynthesis in fibroblasts. These biochemical abnormalities, previously described in the Zellweger syndrome, suggest multiple peroxisomal dysfunction in our patients.<\/jats:p>","DOI":"10.1007\/bf01799455","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:51:43Z","timestamp":1119372703000},"page":"169-174","source":"Crossref","is-referenced-by-count":76,"title":["Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction"],"prefix":"10.1002","volume":"9","author":[{"given":"B. 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