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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1-2
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pubmed:dateCreated |
1986-9-16
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pubmed:abstractText |
In this paper we show that whereas acyl-CoA: dihydroxyacetone phosphate acyltransferase, a membrane-bound peroxisomal enzyme, is deficient in homogenates of cultured amniotic fluid cells of fetuses with Zellweger syndrome, catalase a soluble peroxisomal matrix enzyme is present in normal amounts. Digitonin titration experiments revealed a striking difference in the percentage of particle-bound catalase in control and Zellweger amniocytes: in Zellweger amniocytes all catalase activity was found to be present in the soluble cytoplasm, (less than 5% particle-bound), whereas in control amniocytes catalase was found to be predominantly particle-bound (62% +/- 8%, n = 5). Measurement of the percentage of particle-bound catalase by means of digitonin titrations thus provides a simple prenatal test for Zellweger syndrome via the direct demonstration of the presence or absence of catalase-containing particles (peroxisomes).
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0340-6199
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
145
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
136-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:3732317-Acyltransferases,
pubmed-meshheading:3732317-Amniotic Fluid,
pubmed-meshheading:3732317-Catalase,
pubmed-meshheading:3732317-Cells, Cultured,
pubmed-meshheading:3732317-Facial Bones,
pubmed-meshheading:3732317-Female,
pubmed-meshheading:3732317-Genetic Diseases, Inborn,
pubmed-meshheading:3732317-Hepatomegaly,
pubmed-meshheading:3732317-Humans,
pubmed-meshheading:3732317-Microbodies,
pubmed-meshheading:3732317-Polycystic Kidney Diseases,
pubmed-meshheading:3732317-Pregnancy,
pubmed-meshheading:3732317-Prenatal Diagnosis,
pubmed-meshheading:3732317-Skull,
pubmed-meshheading:3732317-Syndrome
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pubmed:year |
1986
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pubmed:articleTitle |
A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells.
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pubmed:publicationType |
Journal Article
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