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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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Article
3-Methylglutaconic aciduria with persistent metabolic acidosis and ‘uncoupling episodes’