Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger.
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چکیده
منابع مشابه
Zellweger syndrome (cerebro-hepato-renal syndrome).
A syndrome with distinctive clinical features affecting brain, liver and kidneys was described by Bowen et al in 1964 1 and Smith et al. in 1965 2 . In 1973 Goldfisher et al 3 has reported that peroxisomes were absent in the liver and kidneys of affected children. More recently lack of dihydroxyacetone phosphate acyletransferase (DHAP-AT) a peroxisomal enzyme with a major role in glycerol ether...
متن کاملBand heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome).
Zellweger syndrome (cerebro-hepato-renal syndrome) is associated with generalized hypotonia, high forehead with flattened facies, hepatomegaly and talipes equinovarus. This pattern of malformations was first recognized in 1964 by Bowen and Smith. Zellweger syndrome is an autosomal recessive genetic disorder that is associated with multiple biochemical markers of peroxisomal dysfunction. A full ...
متن کاملTapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome.
Electrophysiological and histopathological study of a baby suffering from Zellweger's syndrome and presenting progressive retinal dysfunction showed this to be related to degenerative changes in the photoreceptor cells and pigment epithelium and to defective myelination of the optic nerve. Disturbances of bile acid and lysine metabolism were also demonstrated, lending support to the concept tha...
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the effect of taftan pozzolan on the compressive strength of concrete in the environmental conditions of oman sea (chabahar port)
cement is an essential ingredient in the concrete buildings. for production of cement considerable amount of fossil fuel and electrical energy is consumed. on the other hand for generating one tone of portland cement, nearly one ton of carbon dioxide is released. it shows that 7 percent of the total released carbon dioxide in the world relates to the cement industry. considering ecological issu...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1985
ISSN: 0021-9738
DOI: 10.1172/jci111717