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- W2087046633 abstract "Abstract We measured the activity of dihydroxyacetone phosphate acyltransferase (DHAP‐AT) in fibroblasts of controls and patients with classical Refsum's disease (RD), infantile Refsum's disease (IRD) and Zellweger's syndrome (ZS). We confirmed that DHAP‐AT activity is severely reduced in ZS fibroblasts and amniocytes. We also demonstrated a partial deficiency of DHAP‐AT activity in RD and IRD fibroblast cultures. These diseases are probably distinct but related entities in which peroxisomal biogenesis is affected to varying degrees." @default.
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- W2087046633 date "1985-02-11" @default.
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- W2087046633 title "Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases" @default.
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- W2087046633 doi "https://doi.org/10.1007/bf01799453" @default.
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