| pubmed-article:837570 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:837570 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:837570 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:837570 | lifeskim:mentions | umls-concept:C0016030 | lld:lifeskim |
| pubmed-article:837570 | lifeskim:mentions | umls-concept:C0040676 | lld:lifeskim |
| pubmed-article:837570 | lifeskim:mentions | umls-concept:C0242960 | lld:lifeskim |
| pubmed-article:837570 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:837570 | pubmed:dateCreated | 1977-4-28 | lld:pubmed |
| pubmed-article:837570 | pubmed:abstractText | Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyham syndrome, from two families with variant H-PRT mutations and three cell strains from patients with the Lesch-Nyham syndrome were investigated. Cells from patients with the Lesch-Nyham syndrome showed almost no hypoxanthine incorporation and resistance to concentrations of 8-azaguanine up to 10(-3) M, whereas cells of patients with partial H-PRT deficiency demonstrated variant patterns of hypoxanthine uptake and partial resistance to 8-azaguanine. Lyophilisation of fibroblast sediment from patients with the Lesch-Nyhan syndrome and patients with variant H-PRT mutations showed activation of the deficient or partially deficient H-PRT enzyme. No such activation was observed in healthy controls. Activation of lyophilised fibroblast extract from patients and controls was not obtained. These results suggest that H-PRT could be associated with the cell membranes. | lld:pubmed |
| pubmed-article:837570 | pubmed:language | eng | lld:pubmed |
| pubmed-article:837570 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:837570 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:837570 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:837570 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:837570 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:837570 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:837570 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:837570 | pubmed:issn | 0009-9163 | lld:pubmed |
| pubmed-article:837570 | pubmed:author | pubmed-author:SinghSS | lld:pubmed |
| pubmed-article:837570 | pubmed:author | pubmed-author:HeldK RKR | lld:pubmed |
| pubmed-article:837570 | pubmed:author | pubmed-author:GoeddeH WHW | lld:pubmed |
| pubmed-article:837570 | pubmed:author | pubmed-author:WillertHH | lld:pubmed |
| pubmed-article:837570 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:837570 | pubmed:volume | 11 | lld:pubmed |
| pubmed-article:837570 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:837570 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:837570 | pubmed:pagination | 193-200 | lld:pubmed |
| pubmed-article:837570 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-H... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-H... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-M... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-F... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-M... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-F... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-F... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-C... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-A... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-H... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-L... | lld:pubmed |
| pubmed-article:837570 | pubmed:meshHeading | pubmed-meshheading:837570-H... | lld:pubmed |
| pubmed-article:837570 | pubmed:year | 1977 | lld:pubmed |
| pubmed-article:837570 | pubmed:articleTitle | Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families. | lld:pubmed |
| pubmed-article:837570 | pubmed:publicationType | Journal Article | lld:pubmed |
