{"id":"https://openalex.org/W1982281975","doi":"https://doi.org/10.1016/0014-4827(73)90466-7","title":"Lesch-Nyhan syndrome: Incorporation of hypoxanthine in stimulated lymphocytes","display_name":"Lesch-Nyhan syndrome: Incorporation of hypoxanthine in stimulated lymphocytes","publication_year":1973,"publication_date":"1973-06-01","ids":{"openalex":"https://openalex.org/W1982281975","doi":"https://doi.org/10.1016/0014-4827(73)90466-7","mag":"1982281975","pmid":"https://pubmed.ncbi.nlm.nih.gov/4798705"},"language":"en","primary_location":{"id":"doi:10.1016/0014-4827(73)90466-7","doi":"https://doi.org/10.1016/0014-4827(73)90466-7","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0014-4827(73)90466-7","pdf_url":null,"source":{"id":"https://openalex.org/S132505712","display_name":"Experimental Cell Research","issn_l":"0014-4827","issn":["0014-4827","1090-2422"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Experimental Cell Research","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111720673","display_name":"Chris H.M.M. De Bruyn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"C.H.M.M. De Bruyn","raw_affiliation_strings":["Department of Human Genetics, Faculty of Medicine, University of Nijmegen, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Faculty of Medicine, University of Nijmegen, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110113495","display_name":"T. Lian Oei","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"T.L. Oei","raw_affiliation_strings":["Department of Human Genetics, Faculty of Medicine, University of Nijmegen, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Faculty of Medicine, University of Nijmegen, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I145872427"],"apc_list":{"value":3270,"currency":"USD","value_usd":3270},"apc_paid":null,"fwci":0.9581,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.67825058,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"79","issue":"2","first_page":"450","last_page":"452"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/lesch-nyhan-syndrome","display_name":"Lesch-Nyhan syndrome","score":1.0},{"id":"https://openalex.org/keywords/hypoxanthine-incorporation","display_name":"hypoxanthine incorporation","score":0.8529999852180481},{"id":"https://openalex.org/keywords/lymphocytes","display_name":"lymphocytes","score":0.7350000143051147},{"id":"https://openalex.org/keywords/phytohemagglutinin-stimulation","display_name":"phytohemagglutinin stimulation","score":0.9610000252723694},{"id":"https://openalex.org/keywords/hypoxanthine-guanine-phosphoribosyltransferase-deficiency","display_name":"hypoxanthine-guanine phosphoribosyltransferase deficiency","score":0.9480000138282776},{"id":"https://openalex.org/keywords/phosphoribosyl-pyrophosphate","display_name":"phosphoribosylpyrophosphate","score":0.9480000138282776},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.8040000200271606},{"id":"https://openalex.org/keywords/purine-metabolism","display_name":"purine metabolism","score":0.7139999866485596}],"concepts":[{"id":"https://openalex.org/C78179603","wikidata":"https://www.wikidata.org/wiki/Q14864606","display_name":"Hypoxanthine-guanine phosphoribosyltransferase","level":4,"score":0.9476266503334045},{"id":"https://openalex.org/C2781116151","wikidata":"https://www.wikidata.org/wiki/Q410305","display_name":"Hypoxanthine","level":3,"score":0.9142464399337769},{"id":"https://openalex.org/C2777766392","wikidata":"https://www.wikidata.org/wiki/Q727436","display_name":"Lesch\u2013Nyhan syndrome","level":5,"score":0.9091862440109253},{"id":"https://openalex.org/C2909697302","wikidata":"https://www.wikidata.org/wiki/Q14864606","display_name":"Hypoxanthine Phosphoribosyltransferase","level":5,"score":0.8112595081329346},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7340549230575562},{"id":"https://openalex.org/C197957613","wikidata":"https://www.wikidata.org/wiki/Q407280","display_name":"Cofactor","level":3,"score":0.5440224409103394},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.44387489557266235},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.4378507435321808},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.43542906641960144},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.1484297513961792},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08892515301704407},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.07604730129241943},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D001345","descriptor_name":"Autoradiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002875","descriptor_name":"Chromosomes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007042","descriptor_name":"Hypoxanthines","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D007926","descriptor_name":"Lesch-Nyhan Syndrome","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D007926","descriptor_name":"Lesch-Nyhan Syndrome","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D010430","descriptor_name":"Pentosyltransferases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014316","descriptor_name":"Tritium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D037102","descriptor_name":"Lectins","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/0014-4827(73)90466-7","doi":"https://doi.org/10.1016/0014-4827(73)90466-7","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0014-4827(73)90466-7","pdf_url":null,"source":{"id":"https://openalex.org/S132505712","display_name":"Experimental Cell Research","issn_l":"0014-4827","issn":["0014-4827","1090-2422"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Experimental Cell Research","raw_type":"journal-article"},{"id":"pmid:4798705","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/4798705","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Experimental cell research","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W1485480802","https://openalex.org/W1967613916","https://openalex.org/W1976566711","https://openalex.org/W2000339480","https://openalex.org/W2005635581","https://openalex.org/W2022546935","https://openalex.org/W2050527189","https://openalex.org/W2081561037","https://openalex.org/W2086047190","https://openalex.org/W2120613619","https://openalex.org/W2121824751"],"related_works":["https://openalex.org/W1968702554","https://openalex.org/W2070249465","https://openalex.org/W2014950962","https://openalex.org/W1995129164","https://openalex.org/W2007890930","https://openalex.org/W2409412567","https://openalex.org/W1997134989","https://openalex.org/W2530204394","https://openalex.org/W2410433274","https://openalex.org/W107077377"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}