{"id":"https://openalex.org/W2071935958","doi":"https://doi.org/10.1016/0140-6736(91)93377-l","title":"Abnormal frequency of \u0394F508 mutation in neonatal transitory hypertrypsinaemia","display_name":"Abnormal frequency of \u0394F508 mutation in neonatal transitory hypertrypsinaemia","publication_year":1991,"publication_date":"1991-01-01","ids":{"openalex":"https://openalex.org/W2071935958","doi":"https://doi.org/10.1016/0140-6736(91)93377-l","mag":"2071935958","pmid":"https://pubmed.ncbi.nlm.nih.gov/1670678"},"language":"en","primary_location":{"id":"doi:10.1016/0140-6736(91)93377-l","doi":"https://doi.org/10.1016/0140-6736(91)93377-l","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0140-6736(91)93377-l","pdf_url":null,"source":{"id":"https://openalex.org/S49861241","display_name":"The Lancet","issn_l":"0099-5355","issn":["0099-5355","0140-6736","1474-547X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","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":"The Lancet","raw_type":"journal-article"},"volume":null,"type":"letter","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/A5113653458","display_name":"D. Laroche","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210114068","display_name":"Centre Hospitalier Universitaire de Caen Normandie","ror":"https://ror.org/027arzy69","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210114068"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Dominique Laroche","raw_affiliation_strings":["Radioisotope Service, CHRU de Caen, 14033 Caen, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Radioisotope Service, CHRU de Caen, 14033 Caen, France","institution_ids":["https://openalex.org/I4210114068"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061782750","display_name":"G Travert","orcid":"https://orcid.org/0000-0002-8288-2849","observed_orcids":["https://orcid.org/0000-0002-8288-2849"]},"institutions":[{"id":"https://openalex.org/I4210114068","display_name":"Centre Hospitalier Universitaire de Caen Normandie","ror":"https://ror.org/027arzy69","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210114068"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Georges Travert","raw_affiliation_strings":["Radioisotope Service, CHRU de Caen, 14033 Caen, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Radioisotope Service, CHRU de Caen, 14033 Caen, France","institution_ids":["https://openalex.org/I4210114068"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210114068"],"apc_list":{"value":7890,"currency":"USD","value_usd":7890},"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":48,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"337","issue":"8732","first_page":"55","last_page":"55"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9053000211715698,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9053000211715698,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.01549999974668026,"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"}},{"id":"https://openalex.org/T10549","display_name":"Neonatal Respiratory Health Research","score":0.007400000002235174,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/f508del-mutation","display_name":"F508del mutation","score":0.9670000076293945},{"id":"https://openalex.org/keywords/cystic-fibrosis","display_name":"cystic fibrosis","score":0.9150000214576721},{"id":"https://openalex.org/keywords/cftr","display_name":"CFTR","score":0.5},{"id":"https://openalex.org/keywords/trypsinogen","display_name":"trypsinogen","score":0.5540000200271606},{"id":"https://openalex.org/keywords/exocrine-pancreatic-insufficiency","display_name":"exocrine pancreatic insufficiency","score":0.5889999866485596}],"concepts":[{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5475446581840515},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5073959231376648},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.38137638568878174},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2793046832084656},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","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":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014357","descriptor_name":"Trypsin","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/0140-6736(91)93377-l","doi":"https://doi.org/10.1016/0140-6736(91)93377-l","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0140-6736(91)93377-l","pdf_url":null,"source":{"id":"https://openalex.org/S49861241","display_name":"The Lancet","issn_l":"0099-5355","issn":["0099-5355","0140-6736","1474-547X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","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":"The Lancet","raw_type":"journal-article"},{"id":"pmid:1670678","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1670678","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":"Lancet (London, England)","raw_type":"Letter"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":3,"referenced_works":["https://openalex.org/W2003559527","https://openalex.org/W2116830768","https://openalex.org/W2125391335"],"related_works":["https://openalex.org/W2021224553","https://openalex.org/W2413777420","https://openalex.org/W2936576426","https://openalex.org/W7008794400","https://openalex.org/W2092776464","https://openalex.org/W2071117056","https://openalex.org/W2322111481","https://openalex.org/W2263118404","https://openalex.org/W4239357386","https://openalex.org/W2317373408"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-06-24T00:00:00"}
