pubmed-article:2712823 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:2712823 | lifeskim:mentions | umls-concept:C1516110 | lld:lifeskim |
pubmed-article:2712823 | lifeskim:mentions | umls-concept:C0054318 | lld:lifeskim |
pubmed-article:2712823 | lifeskim:mentions | umls-concept:C0241775 | lld:lifeskim |
pubmed-article:2712823 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
pubmed-article:2712823 | pubmed:issue | 1-2 | lld:pubmed |
pubmed-article:2712823 | pubmed:dateCreated | 1989-5-26 | lld:pubmed |
pubmed-article:2712823 | pubmed:abstractText | A metabolic screening program of inbred strains of mice has detected a marked organic aciduria in the BALB/cByJ strain. Gas chromatographic and mass spectrometric analysis identified large quantities of n-butyrylglycine plus lesser quantities of ethylmalonic acid. Crosses with the nonexcreting C57BL/6J strain indicate that this condition is inherited as an autosomal recessive trait. Independently from this screening a variant with no detectable enzyme activity of butyryl CoA dehydrogenase (BCD) in liver and kidney of the BALB/cByJ strain but not other BALB/c sublines was discovered. Data from a three-point cross indicated that the null variant maps to the structural locus for the enzyme, Bcd-1, on chromosome 5. The findings indicate that a mutation at or near Bcd-1 in the BALB/cByJ strain resulted in a biochemical abnormality manifest as the BCD deficiency. It is concluded that accumulation of butyryl CoA due to a block in the oxidation of short-chain fatty acids results in an overproduction of organic metabolites leading to the observed organic aciduria. The fact that other BALB/c substrains do not exhibit this abnormality further suggests that this disorder reflects subline divergence within the BALB/c family. | lld:pubmed |
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pubmed-article:2712823 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2712823 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2712823 | pubmed:language | eng | lld:pubmed |
pubmed-article:2712823 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2712823 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:2712823 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2712823 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2712823 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2712823 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2712823 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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pubmed-article:2712823 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2712823 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:2712823 | pubmed:month | Feb | lld:pubmed |
pubmed-article:2712823 | pubmed:issn | 0006-2928 | lld:pubmed |
pubmed-article:2712823 | pubmed:author | pubmed-author:PattersonD... | lld:pubmed |
pubmed-article:2712823 | pubmed:author | pubmed-author:JezykP FPF | lld:pubmed |
pubmed-article:2712823 | pubmed:author | pubmed-author:YudkoffMM | lld:pubmed |
pubmed-article:2712823 | pubmed:author | pubmed-author:RoderickT HTH | lld:pubmed |
pubmed-article:2712823 | pubmed:author | pubmed-author:ProchazkaMM | lld:pubmed |
pubmed-article:2712823 | pubmed:author | pubmed-author:SchifferS PSP | lld:pubmed |
pubmed-article:2712823 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:2712823 | pubmed:volume | 27 | lld:pubmed |
pubmed-article:2712823 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:2712823 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:2712823 | pubmed:pagination | 47-58 | lld:pubmed |
pubmed-article:2712823 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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pubmed-article:2712823 | pubmed:meshHeading | pubmed-meshheading:2712823-... | lld:pubmed |
pubmed-article:2712823 | pubmed:year | 1989 | lld:pubmed |
pubmed-article:2712823 | pubmed:articleTitle | Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice. | lld:pubmed |
pubmed-article:2712823 | pubmed:affiliation | Department of Anatomy and Cell Biology, Georgetown University School of Medicine, Washington, D.C. 20007. | lld:pubmed |
pubmed-article:2712823 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:2712823 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
pubmed-article:2712823 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
pubmed-article:2712823 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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