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Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: Study of a patient with infantile refsum disease
Hypocholesterolaemia in infantile Refsum disease (IRD) may link peroxisomes and lipoprotein metabolism. In our patient, plasma cholesterol levels were reduced to 26% and 29% of control in LDL and HDL fractions...
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Zellweger-like phenotype in two siblings: A defect in peroxisomal β-oxidation with elevated very long-chain fatty acids but normal bile acids
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Article
Haemophagocytosis in hereditary fructose intolerance: a diagnostic dilemma