Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes
Skin fibroblasts from three obligated and one potential heterozygotes for the Hunter gene displayed abnormal metabolism of glycosaminoglycans four to six weeks after rapid freezing in liquid nitrogen. The technique seems to be useful for the identification of Hunter carriers, especially when the deg...
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| Veröffentlicht in: | Pediatrics (Evanston) 1975-09, Vol.56 (3), p.429-433 |
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| container_title | Pediatrics (Evanston) |
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| creator | Donnelly, P V Di Ferrante, N |
| description | Skin fibroblasts from three obligated and one potential heterozygotes for the Hunter gene displayed abnormal metabolism of glycosaminoglycans four to six weeks after rapid freezing in liquid nitrogen. The technique seems to be useful for the identification of Hunter carriers, especially when the degradation of 35SO4-labeled, intracellular glycosaminoglycans, rather than the uptake of 35SO4, is measured. |
| doi_str_mv | 10.1542/peds.56.3.429 |
| format | Article |
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The technique seems to be useful for the identification of Hunter carriers, especially when the degradation of 35SO4-labeled, intracellular glycosaminoglycans, rather than the uptake of 35SO4, is measured.</description><identifier>ISSN: 0031-4005</identifier><identifier>EISSN: 1098-4275</identifier><identifier>DOI: 10.1542/peds.56.3.429</identifier><identifier>PMID: 808791</identifier><language>eng</language><publisher>United States</publisher><subject>Adult ; Cell Line ; Child ; Female ; Fibroblasts - analysis ; Fibroblasts - metabolism ; Freezing ; Glycosaminoglycans - metabolism ; Heterozygote ; Humans ; Male ; Mucopolysaccharidosis II - genetics</subject><ispartof>Pediatrics (Evanston), 1975-09, Vol.56 (3), p.429-433</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c287t-c2576b344d0f1031506cd94a6c5a1a52f1a63c77bb7a3622c9cdf9ef30986b7d3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/808791$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Donnelly, P V</creatorcontrib><creatorcontrib>Di Ferrante, N</creatorcontrib><title>Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes</title><title>Pediatrics (Evanston)</title><addtitle>Pediatrics</addtitle><description>Skin fibroblasts from three obligated and one potential heterozygotes for the Hunter gene displayed abnormal metabolism of glycosaminoglycans four to six weeks after rapid freezing in liquid nitrogen. The technique seems to be useful for the identification of Hunter carriers, especially when the degradation of 35SO4-labeled, intracellular glycosaminoglycans, rather than the uptake of 35SO4, is measured.</description><subject>Adult</subject><subject>Cell Line</subject><subject>Child</subject><subject>Female</subject><subject>Fibroblasts - analysis</subject><subject>Fibroblasts - metabolism</subject><subject>Freezing</subject><subject>Glycosaminoglycans - metabolism</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Mucopolysaccharidosis II - genetics</subject><issn>0031-4005</issn><issn>1098-4275</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1975</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kDtPwzAUhS3EqxRGNoZMbAl-2xmhAopUgcRjthzbIUFpXWxnKL8el1Ys90rnfjo69wBwiWCFGMU3a2djxXhFKorrAzBBsJYlxYIdggmEBJUUQnYKzmL8ghBSJvAJOJZQihpNwNurG3rd9EOfNoVvi9S54s771JXP2g4uFMmZbtV_j65offg7W5e11PvVlp-Pq5SpLmvB_2w-fXLxHBy1eojuYr-n4OPh_n02Lxcvj0-z20VpsBQpTyZ4Qyi1sEU5J4Pc2JpqbphGmuEWaU6MEE0jNOEYm9rYtnYtyf_xRlgyBdc733XwOWBMatlH44ZBr5wfo5IEQim5zGC5A03wMQbXqnXolzpsFIJq26HadqgYV0TlDjN_tTcem6Wz__SuNPILpEht9w</recordid><startdate>197509</startdate><enddate>197509</enddate><creator>Donnelly, P V</creator><creator>Di Ferrante, N</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>197509</creationdate><title>Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes</title><author>Donnelly, P V ; Di Ferrante, N</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c287t-c2576b344d0f1031506cd94a6c5a1a52f1a63c77bb7a3622c9cdf9ef30986b7d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1975</creationdate><topic>Adult</topic><topic>Cell Line</topic><topic>Child</topic><topic>Female</topic><topic>Fibroblasts - analysis</topic><topic>Fibroblasts - metabolism</topic><topic>Freezing</topic><topic>Glycosaminoglycans - metabolism</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Male</topic><topic>Mucopolysaccharidosis II - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Donnelly, P V</creatorcontrib><creatorcontrib>Di Ferrante, N</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatrics (Evanston)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Donnelly, P V</au><au>Di Ferrante, N</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes</atitle><jtitle>Pediatrics (Evanston)</jtitle><addtitle>Pediatrics</addtitle><date>1975-09</date><risdate>1975</risdate><volume>56</volume><issue>3</issue><spage>429</spage><epage>433</epage><pages>429-433</pages><issn>0031-4005</issn><eissn>1098-4275</eissn><abstract>Skin fibroblasts from three obligated and one potential heterozygotes for the Hunter gene displayed abnormal metabolism of glycosaminoglycans four to six weeks after rapid freezing in liquid nitrogen. The technique seems to be useful for the identification of Hunter carriers, especially when the degradation of 35SO4-labeled, intracellular glycosaminoglycans, rather than the uptake of 35SO4, is measured.</abstract><cop>United States</cop><pmid>808791</pmid><doi>10.1542/peds.56.3.429</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0031-4005 |
| ispartof | Pediatrics (Evanston), 1975-09, Vol.56 (3), p.429-433 |
| issn | 0031-4005 1098-4275 |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | Adult Cell Line Child Female Fibroblasts - analysis Fibroblasts - metabolism Freezing Glycosaminoglycans - metabolism Heterozygote Humans Male Mucopolysaccharidosis II - genetics |
| title | Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes |
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