| pubmed-article:699321 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C0014442 | lld:lifeskim |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C0023516 | lld:lifeskim |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C0016030 | lld:lifeskim |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C0061510 | lld:lifeskim |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C0205307 | lld:lifeskim |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C0268594 | lld:lifeskim |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C0596988 | lld:lifeskim |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C1442179 | lld:lifeskim |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C0376315 | lld:lifeskim |
| pubmed-article:699321 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
| pubmed-article:699321 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:699321 | pubmed:dateCreated | 1978-12-20 | lld:pubmed |
| pubmed-article:699321 | pubmed:abstractText | Three patients with glutaric aciduria have been shown to possess a partial but severe defect of the enzyme glutaryl-CoA dehydrogenase in isolated leucocytes and cultured skin fibroblasts. They could readily be distinguished from heterozygotes by measuring the activity of this enzyme, as shown in a study of the two families involved. The activity of glutaryl-CoA dehydrogenase in normal cultured amniotic fluid cells was comparable to the activity in normal cultured skin fibroblasts indicating the possibility of prenatal diagnosis. Without flavin adenine dinucleotide added to the assay mixture, the activity of glutaryl-CoA dehydrogenase in fibroblasts from normal individuals was very much reduced and similar to the activity in the patients, but after addition of flavin adenine dinucleotide to saturation the activity increased 20-fold in normal subjects while only a very slight increase could be demonstrated in the patients. The Michaelis constant for the substrate glutaryl-CoA was similar for both normal and patient cell lines. The optimum assay conditions for the enzyme in cultured fibroblasts from normal individuals have been established. In contrast to our patients, we found no activity in a fibroblast cell line from a patient with glutaric aciduria diagnosed elsewhere. | lld:pubmed |
| pubmed-article:699321 | pubmed:language | eng | lld:pubmed |
| pubmed-article:699321 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:699321 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:699321 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:699321 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:699321 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:699321 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:699321 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:699321 | pubmed:issn | 0009-8981 | lld:pubmed |
| pubmed-article:699321 | pubmed:author | pubmed-author:ChristensenEE | lld:pubmed |
| pubmed-article:699321 | pubmed:author | pubmed-author:BrandtN JNJ | lld:pubmed |
| pubmed-article:699321 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:699321 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:699321 | pubmed:volume | 88 | lld:pubmed |
| pubmed-article:699321 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:699321 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:699321 | pubmed:pagination | 267-76 | lld:pubmed |
| pubmed-article:699321 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:699321 | pubmed:meshHeading | pubmed-meshheading:699321-M... | lld:pubmed |
| pubmed-article:699321 | pubmed:year | 1978 | lld:pubmed |
| pubmed-article:699321 | pubmed:articleTitle | Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria. | lld:pubmed |
| pubmed-article:699321 | pubmed:publicationType | Journal Article | lld:pubmed |
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