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- W2039088351 abstract "We examined liver biopsies from 4 patients with the infantile form of Refsum disease. No peroxisomes were visualized by light microscopy after cytochemical staining for catalase, a marker enzyme for this organelle. Absence of peroxisomes was confirmed by electron microscopy in 3 patients; in the 4th patient we observed organelles of peculiar size and structure and with minimal catalase activity. Light microscopy also showed birefringent macrophages containing P.A.S.-positive material; they were abundant in the 3 older children, and rare in the youngest (8 months). Peroxisomes and birefringent macrophages were absent in 2 patients with the cerebrohepatorenal syndrome of Zellweger. The simultaneous presence of these unique light microscopical characteristics may be of diagnostic value." @default.
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- W2039088351 date "1986-10-01" @default.
- W2039088351 modified "2023-10-16" @default.
- W2039088351 title "Hepatic peroxisomes are deficient in infantile refsum disease: A cytochemical study of 4 cases" @default.
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- W2039088351 doi "https://doi.org/10.1002/ajmg.1320250210" @default.
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