{"id":"https://openalex.org/W2621164587","doi":"https://doi.org/10.1016/j.ejmg.2017.05.005","title":"Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS","display_name":"Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS","publication_year":2017,"publication_date":"2017-05-31","ids":{"openalex":"https://openalex.org/W2621164587","doi":"https://doi.org/10.1016/j.ejmg.2017.05.005","mag":"2621164587","pmid":"https://pubmed.ncbi.nlm.nih.gov/28576691"},"language":"en","primary_location":{"id":"doi:10.1016/j.ejmg.2017.05.005","doi":"https://doi.org/10.1016/j.ejmg.2017.05.005","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2017.05.005","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"European Journal of Medical Genetics","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/A5081525455","display_name":"Frederico Soares Regateiro","orcid":"https://orcid.org/0000-0002-6332-3056","observed_orcids":["https://orcid.org/0000-0002-6332-3056"]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]},{"id":"https://openalex.org/I76903346","display_name":"University of Coimbra","ror":"https://ror.org/04z8k9a98","country_code":"PT","type":"education","lineage":["https://openalex.org/I76903346"]}],"countries":["PT"],"is_corresponding":true,"raw_author_name":"Frederico S. Regateiro","raw_affiliation_strings":["Servi\u00e7o de Pediatria M\u00e9dica, Hospital Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio de Coimbra (CHUC), Coimbra, Portugal; Instituto de Imunologia, Faculdade de Medicina, Universidade de Coimbra, Portugal. Electronic address: regateiro@gmail.com","Instituto de Imunologia, Faculdade de Medicina, Universidade de Coimbra, Portugal","Servi\u00e7o de Pediatria M\u00e9dica, Hospital Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio de Coimbra (CHUC), Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o de Pediatria M\u00e9dica, Hospital Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio de Coimbra (CHUC), Coimbra, Portugal; Instituto de Imunologia, Faculdade de Medicina, Universidade de Coimbra, Portugal. Electronic address: regateiro@gmail.com","institution_ids":["https://openalex.org/I2802025818","https://openalex.org/I76903346"]},{"raw_affiliation_string":"Instituto de Imunologia, Faculdade de Medicina, Universidade de Coimbra, Portugal","institution_ids":["https://openalex.org/I76903346"]},{"raw_affiliation_string":"Servi\u00e7o de Pediatria M\u00e9dica, Hospital Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio de Coimbra (CHUC), Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002107110","display_name":"Serkan Belkaya","orcid":"https://orcid.org/0000-0003-4214-382X","observed_orcids":["https://orcid.org/0000-0003-4214-382X"]},"institutions":[{"id":"https://openalex.org/I83399316","display_name":"Rockefeller University","ror":"https://ror.org/0420db125","country_code":"US","type":"education","lineage":["https://openalex.org/I83399316"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Serkan Belkaya","raw_affiliation_strings":["St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA","institution_ids":["https://openalex.org/I83399316"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068791853","display_name":"N\u00e9lson Neves","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"N\u00e9lson Neves","raw_affiliation_strings":["Servi\u00e7o de Pediatria M\u00e9dica, Hospital Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio de Coimbra (CHUC), Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o de Pediatria M\u00e9dica, Hospital Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio de Coimbra (CHUC), Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007809034","display_name":"Sandra Roberta G. Ferreira","orcid":"https://orcid.org/0000-0002-7015-7391","observed_orcids":["https://orcid.org/0000-0002-7015-7391"]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Sandra Ferreira","raw_affiliation_strings":["Unidade de Hepatologia e Transplanta\u00e7\u00e3o Hep\u00e1tica Pedi\u00e1trica, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unidade de Hepatologia e Transplanta\u00e7\u00e3o Hep\u00e1tica Pedi\u00e1trica, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014611896","display_name":"Paula Silvestre","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405252662","display_name":"Unidade Local de Sa\u00fade de Castelo Branco EPE","ror":"https://ror.org/0472q6y77","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4405252662"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Paula Silvestre","raw_affiliation_strings":["Servi\u00e7o de Pediatria, Hospital Amato Lusitano, Castelo Branco, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o de Pediatria, Hospital Amato Lusitano, Castelo Branco, Portugal","institution_ids":["https://openalex.org/I4405252662"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040553540","display_name":"S\u00f3nia Gaspar Lemos","orcid":"https://orcid.org/0000-0002-2079-1650","observed_orcids":["https://orcid.org/0000-0002-2079-1650"]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"S\u00f3nia Lemos","raw_affiliation_strings":["Consulta de Imunodefici\u00eancias Prim\u00e1rias, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Consulta de Imunodefici\u00eancias Prim\u00e1rias, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108505087","display_name":"Margarida Ven\u00e2ncio","orcid":"https://orcid.org/0000-0002-3291-4638","observed_orcids":["https://orcid.org/0000-0002-3291-4638"]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Margarida Ven\u00e2ncio","raw_affiliation_strings":["Servi\u00e7o de Pediatria Ambulat\u00f3ria, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o de Pediatria Ambulat\u00f3ria, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047928635","display_name":"Jean\u2010Laurent Casanova","orcid":"https://orcid.org/0000-0002-7782-4169","observed_orcids":["https://orcid.org/0000-0002-7782-4169"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]},{"id":"https://openalex.org/I83399316","display_name":"Rockefeller University","ror":"https://ror.org/0420db125","country_code":"US","type":"education","lineage":["https://openalex.org/I83399316"]}],"countries":["FR","US"],"is_corresponding":false,"raw_author_name":"Jean-Laurent Casanova","raw_affiliation_strings":["St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Pediatric Hematology - Immunology Unit, Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute, The Rockefeller University, New York, USA","Howard Hughes Medical Institute, The Rockefeller University, New York, USA","Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France","Paris Descartes University, Imagine Institute, Paris, France","Pediatric Hematology - Immunology Unit, Necker Hospital for Sick Children, Paris, France","St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Pediatric Hematology - Immunology Unit, Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute, The Rockefeller University, New York, USA","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I1344073410","https://openalex.org/I154526488","https://openalex.org/I4210165077","https://openalex.org/I4387156284","https://openalex.org/I83399316"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, The Rockefeller University, New York, USA","institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I83399316"]},{"raw_affiliation_string":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Paris Descartes University, Imagine Institute, Paris, France","institution_ids":["https://openalex.org/I4210165077","https://openalex.org/I4387156284"]},{"raw_affiliation_string":"Pediatric Hematology - Immunology Unit, Necker Hospital for Sick Children, Paris, France","institution_ids":["https://openalex.org/I1288880153"]},{"raw_affiliation_string":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA","institution_ids":["https://openalex.org/I83399316"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101766504","display_name":"Isabel Gon\u00e7alves","orcid":"https://orcid.org/0000-0001-9219-8787","observed_orcids":["https://orcid.org/0000-0001-9219-8787"]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Isabel Gon\u00e7alves","raw_affiliation_strings":["Unidade de Hepatologia e Transplanta\u00e7\u00e3o Hep\u00e1tica Pedi\u00e1trica, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unidade de Hepatologia e Transplanta\u00e7\u00e3o Hep\u00e1tica Pedi\u00e1trica, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063999287","display_name":"Emmanuelle Jouanguy","orcid":"https://orcid.org/0000-0002-7358-9157","observed_orcids":["https://orcid.org/0000-0002-7358-9157"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]},{"id":"https://openalex.org/I83399316","display_name":"Rockefeller University","ror":"https://ror.org/0420db125","country_code":"US","type":"education","lineage":["https://openalex.org/I83399316"]}],"countries":["FR","US"],"is_corresponding":false,"raw_author_name":"Emmanuelle Jouanguy","raw_affiliation_strings":["St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; Paris Descartes University, Imagine Institute, Paris, France","Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France","Paris Descartes University, Imagine Institute, Paris, France","St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; Paris Descartes University, Imagine Institute, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210165077","https://openalex.org/I4387156284","https://openalex.org/I83399316"]},{"raw_affiliation_string":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Paris Descartes University, Imagine Institute, Paris, France","institution_ids":["https://openalex.org/I4210165077","https://openalex.org/I4387156284"]},{"raw_affiliation_string":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA","institution_ids":["https://openalex.org/I83399316"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5030873998","display_name":"Lu\u00edsa M. Diogo","orcid":"https://orcid.org/0000-0003-3821-6643","observed_orcids":["https://orcid.org/0000-0003-3821-6643"]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]},{"id":"https://openalex.org/I76903346","display_name":"University of Coimbra","ror":"https://ror.org/04z8k9a98","country_code":"PT","type":"education","lineage":["https://openalex.org/I76903346"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Lu\u00edsa Diogo","raw_affiliation_strings":["Centro de Desenvolvimento da Crian\u00e7a, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal; Servi\u00e7o de Bioqu\u00edmica, Faculdade de Medicina, Universidade de Coimbra, Portugal","Centro de Desenvolvimento da Crian\u00e7a, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal","Servi\u00e7o de Bioqu\u00edmica, Faculdade de Medicina, Universidade de Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Desenvolvimento da Crian\u00e7a, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal; Servi\u00e7o de Bioqu\u00edmica, Faculdade de Medicina, Universidade de Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818","https://openalex.org/I76903346"]},{"raw_affiliation_string":"Centro de Desenvolvimento da Crian\u00e7a, Hospital Pedi\u00e1trico, CHUC, Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]},{"raw_affiliation_string":"Servi\u00e7o de Bioqu\u00edmica, Faculdade de Medicina, Universidade de Coimbra, Portugal","institution_ids":["https://openalex.org/I76903346"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5081525455"],"corresponding_institution_ids":["https://openalex.org/I2802025818","https://openalex.org/I76903346"],"apc_list":{"value":3330,"currency":"USD","value_usd":3330},"apc_paid":null,"fwci":3.0897,"has_fulltext":false,"cited_by_count":28,"citation_normalized_percentile":{"value":0.92116807,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"60","issue":"8","first_page":"426","last_page":"432"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.3197999894618988,"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.3197999894618988,"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/T12460","display_name":"Pediatric Hepatobiliary Diseases and Treatments","score":0.21130000054836273,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.17350000143051147,"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/nbas","display_name":"NBAS","score":0.7609999775886536},{"id":"https://openalex.org/keywords/acute-liver-failure","display_name":"acute liver failure","score":0.9359999895095825},{"id":"https://openalex.org/keywords/elevated-liver-transaminases","display_name":"elevated liver transaminases","score":0.9259999990463257},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9490000009536743},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7689999938011169},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.4869999885559082},{"id":"https://openalex.org/keywords/urticaria","display_name":"urticaria","score":0.8289999961853027},{"id":"https://openalex.org/keywords/facial-angioedema","display_name":"facial angioedema","score":0.9620000123977661},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.8569999933242798},{"id":"https://openalex.org/keywords/facial-dysmorphism","display_name":"facial dysmorphism","score":0.8519999980926514},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.5659999847412109},{"id":"https://openalex.org/keywords/genotype-phenotype-spectrum","display_name":"genotype-phenotype spectrum","score":0.7929999828338623}],"concepts":[{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.8288586139678955},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.5649392008781433},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5401297211647034},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5384988188743591},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.47371596097946167},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.46392807364463806},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.44403594732284546},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.41925686597824097},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.41622394323349},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3852355182170868},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3571632206439972},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.34181612730026245},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.26038283109664917},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13238295912742615},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000637","descriptor_name":"Transaminases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009363","descriptor_name":"Neoplasm Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017114","descriptor_name":"Liver Failure, Acute","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D017114","descriptor_name":"Liver Failure, Acute","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018388","descriptor_name":"Codon, Terminator","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035781","descriptor_name":"Siblings","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.ejmg.2017.05.005","doi":"https://doi.org/10.1016/j.ejmg.2017.05.005","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2017.05.005","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"European Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:28576691","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28576691","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":"European journal of medical genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1499422972","https://openalex.org/W2023457183","https://openalex.org/W2041231288","https://openalex.org/W2102102188","https://openalex.org/W2103910248","https://openalex.org/W2125479029","https://openalex.org/W2147028045","https://openalex.org/W2154599664","https://openalex.org/W2160995259","https://openalex.org/W2175215455","https://openalex.org/W2255312347","https://openalex.org/W2540229854","https://openalex.org/W2562293983"],"related_works":["https://openalex.org/W1499422972","https://openalex.org/W2907642107","https://openalex.org/W2175215455","https://openalex.org/W2103910248","https://openalex.org/W2625501045","https://openalex.org/W3184345385","https://openalex.org/W4225693905","https://openalex.org/W3012498847","https://openalex.org/W4285726027","https://openalex.org/W2562293983"],"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":2022,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2017-06-09T00:00:00"}