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• W2083691654 abstract "A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS). Morphologically distinct peroxisomes were absent in the liver. In blood elevated pipecolic acid levels and abnormal levels of bile acid intermediates were found. The plasmalogen content of erythrocytes was normal. In fibroblasts we found an accumulation of very long chain fatty acids, decreased activity of acyl CoA: dihydroxyacetone phosphate acyltransferase, and impaired de novo biosynthesis of plasmalogens." @default.
• W2083691654 created "2016-06-24" @default.
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• W2083691654 date "1985-01-01" @default.
• W2083691654 modified "2023-09-27" @default.
• W2083691654 title "A mild variant of Zellweger syndrome" @default.
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• W2083691654 doi "https://doi.org/10.1016/0303-8467(85)90025-3" @default.
• W2083691654 hasPublicationYear "1985" @default.
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