{"id":"https://openalex.org/W2487722154","doi":"https://doi.org/10.1093/med/9780195389838.003.0014","title":"Immunodeficiency Due to Defects of Purine Metabolism","display_name":"Immunodeficiency Due to Defects of Purine Metabolism","publication_year":2013,"publication_date":"2013-11-01","ids":{"openalex":"https://openalex.org/W2487722154","doi":"https://doi.org/10.1093/med/9780195389838.003.0014","mag":"2487722154"},"language":"en","primary_location":{"id":"doi:10.1093/med/9780195389838.003.0014","doi":"https://doi.org/10.1093/med/9780195389838.003.0014","is_oa":false,"landing_page_url":"https://doi.org/10.1093/med/9780195389838.003.0014","pdf_url":null,"source":{"id":"https://openalex.org/S4306463708","display_name":"Oxford University Press eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Primary Immunodeficiency Diseases","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W2476383918","display_name":"Primary Immunodeficiency Diseases"},"type":"book-chapter","indexed_in":["crossref"],"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/A5113695897","display_name":"Rochelle Hirschhorn","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rochelle Hirschhorn","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084267840","display_name":"Eyal Grunebaum","orcid":"https://orcid.org/0000-0002-2586-6391","observed_orcids":["https://orcid.org/0000-0002-2586-6391"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eyal Grunebaum","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081727354","display_name":"Chaim M. Roifman","orcid":"https://orcid.org/0000-0002-7519-4116","observed_orcids":["https://orcid.org/0000-0002-7519-4116"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chaim Roifman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5062385004","display_name":"Fabio Candotti","orcid":"https://orcid.org/0000-0001-6399-6042","observed_orcids":["https://orcid.org/0000-0001-6399-6042"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fabio Candotti","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":4.817,"has_fulltext":false,"cited_by_count":24,"citation_normalized_percentile":{"value":0.95456352,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":null,"issue":null,"first_page":"188","last_page":"230"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":0.9926999807357788,"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":0.9926999807357788,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.005400000140070915,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/immunodeficiency","display_name":"immunodeficiency","score":0.9110000133514404},{"id":"https://openalex.org/keywords/purine-metabolism-disorders","display_name":"purine metabolism disorders","score":0.875},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.7739999890327454},{"id":"https://openalex.org/keywords/purine-salvage-pathway","display_name":"purine salvage pathway","score":0.5929999947547913},{"id":"https://openalex.org/keywords/primary-immunodeficiency","display_name":"primary immunodeficiency","score":0.5950000286102295}],"concepts":[{"id":"https://openalex.org/C2776476023","wikidata":"https://www.wikidata.org/wiki/Q188261","display_name":"Purine","level":3,"score":0.5262243747711182},{"id":"https://openalex.org/C159047783","wikidata":"https://www.wikidata.org/wiki/Q7215","display_name":"Virology","level":1,"score":0.3270438015460968},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.322538286447525},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.24534308910369873},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1093/med/9780195389838.003.0014","doi":"https://doi.org/10.1093/med/9780195389838.003.0014","is_oa":false,"landing_page_url":"https://doi.org/10.1093/med/9780195389838.003.0014","pdf_url":null,"source":{"id":"https://openalex.org/S4306463708","display_name":"Oxford University Press eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Primary Immunodeficiency Diseases","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.46810001134872437,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.5199999809265137,"id":"https://metadata.un.org/sdg/2","display_name":"Zero hunger"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2422257275","https://openalex.org/W4385013267","https://openalex.org/W1971052130","https://openalex.org/W1443373769","https://openalex.org/W2414413318","https://openalex.org/W2409749278","https://openalex.org/W2395775098","https://openalex.org/W2081943269","https://openalex.org/W1999225169","https://openalex.org/W642309889"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-10T09:11:00.788812","created_date":"2016-08-23T00:00:00"}