{"id":"https://openalex.org/W2038968834","doi":"https://doi.org/10.1016/s0929-693x(14)72021-4","title":"SFP P-051 \u2013 Syndrome MEGDEL avec polyurie et insuffisance r\u00e9nale n\u00e9onatales","display_name":"SFP P-051 \u2013 Syndrome MEGDEL avec polyurie et insuffisance r\u00e9nale n\u00e9onatales","publication_year":2014,"publication_date":"2014-05-01","ids":{"openalex":"https://openalex.org/W2038968834","doi":"https://doi.org/10.1016/s0929-693x(14)72021-4","mag":"2038968834"},"language":"fr","primary_location":{"id":"doi:10.1016/s0929-693x(14)72021-4","doi":"https://doi.org/10.1016/s0929-693x(14)72021-4","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0929-693x(14)72021-4","pdf_url":null,"source":{"id":"https://openalex.org/S32515731","display_name":"Archives de P\u00e9diatrie","issn_l":"0929-693X","issn":["0929-693X","1769-664X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","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":"Archives de P\u00e9diatrie","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5011018102","display_name":"Carole Harbulot","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Harbulot","raw_affiliation_strings":["H\u00f4pital Robert Debr\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088049921","display_name":"Imen Dorboz","orcid":"https://orcid.org/0000-0003-3299-1497","observed_orcids":["https://orcid.org/0000-0003-3299-1497"]},"institutions":[{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"I. Dorboz","raw_affiliation_strings":["H\u00f4pital Robert Debr\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111012334","display_name":"Samia Pichard","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S. Pichard","raw_affiliation_strings":["H\u00f4pital Robert Debr\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108414684","display_name":"Agn\u00e8s Bourillon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Bourillon","raw_affiliation_strings":["H\u00f4pital Robert Debr\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114258659","display_name":"Jean Fran\u00e7ois Benoist","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J.F. Benoist","raw_affiliation_strings":["H\u00f4pital Robert Debr\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079335076","display_name":"Claude Jardel","orcid":"https://orcid.org/0000-0001-6203-4474","observed_orcids":["https://orcid.org/0000-0001-6203-4474"]},"institutions":[{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Jardel","raw_affiliation_strings":["H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105687750","display_name":"H\u00e9l\u00e8ne Ogier de Baulny","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"H. Ogier De Baulny","raw_affiliation_strings":["H\u00f4pital Robert Debr\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014385592","display_name":"Odile Boespflug\u2010Tanguy","orcid":"https://orcid.org/0000-0003-2389-1232","observed_orcids":["https://orcid.org/0000-0003-2389-1232"]},"institutions":[{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"O. Boespflug-Tanguy","raw_affiliation_strings":["H\u00f4pital Robert Debr\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210126712"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5000466666","display_name":"Manuel Schiff","orcid":"https://orcid.org/0000-0001-8272-232X","observed_orcids":["https://orcid.org/0000-0001-8272-232X"]},"institutions":[{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. Schiff","raw_affiliation_strings":["H\u00f4pital Robert Debr\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210126712"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2610,"currency":"USD","value_usd":2610},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"21","issue":"5","first_page":"761","last_page":"761"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9984999895095825,"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"}},{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.0007999999797903001,"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/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"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/3-methylglutaconic-aciduria","display_name":"3-methylglutaconic aciduria","score":0.8769999742507935},{"id":"https://openalex.org/keywords/polyuria","display_name":"polyuria","score":0.609000027179718},{"id":"https://openalex.org/keywords/leigh-syndrome","display_name":"Leigh syndrome","score":0.7020000219345093},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.515999972820282},{"id":"https://openalex.org/keywords/sensorineural-hearing-loss","display_name":"sensorineural hearing loss","score":0.7009999752044678},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.6389999985694885},{"id":"https://openalex.org/keywords/homozygous-mutation","display_name":"homozygous mutation","score":0.7429999709129333},{"id":"https://openalex.org/keywords/lactic-acidosis","display_name":"lactic acidosis","score":0.6029999852180481},{"id":"https://openalex.org/keywords/dystonia","display_name":"dystonia","score":0.5389999747276306}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.689146876335144},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.6167904734611511}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/s0929-693x(14)72021-4","doi":"https://doi.org/10.1016/s0929-693x(14)72021-4","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0929-693x(14)72021-4","pdf_url":null,"source":{"id":"https://openalex.org/S32515731","display_name":"Archives de P\u00e9diatrie","issn_l":"0929-693X","issn":["0929-693X","1769-664X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","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":"Archives de P\u00e9diatrie","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2795097571","https://openalex.org/W2295785242","https://openalex.org/W2616225228","https://openalex.org/W2094069242","https://openalex.org/W3032329158","https://openalex.org/W7095342120","https://openalex.org/W2059388249","https://openalex.org/W2110108148","https://openalex.org/W2751392270","https://openalex.org/W3029035779"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-11T09:32:39.932853","created_date":"2016-06-24T00:00:00"}
