{"id":"https://openalex.org/W2020227010","doi":"https://doi.org/10.1046/j.1365-2265.2001.01201.x","title":"Autoimmune polyendocrine syndrome type 1 (APS I) in Norway","display_name":"Autoimmune polyendocrine syndrome type 1 (APS I) in Norway","publication_year":2001,"publication_date":"2001-02-01","ids":{"openalex":"https://openalex.org/W2020227010","doi":"https://doi.org/10.1046/j.1365-2265.2001.01201.x","mag":"2020227010","pmid":"https://pubmed.ncbi.nlm.nih.gov/11207636"},"language":"en","primary_location":{"id":"doi:10.1046/j.1365-2265.2001.01201.x","doi":"https://doi.org/10.1046/j.1365-2265.2001.01201.x","is_oa":false,"landing_page_url":"https://doi.org/10.1046/j.1365-2265.2001.01201.x","pdf_url":null,"source":{"id":"https://openalex.org/S182143151","display_name":"Clinical Endocrinology","issn_l":"0300-0664","issn":["0300-0664","1365-2265"],"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-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Endocrinology","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/A5111946033","display_name":"Anne Grethe Myhre","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":true,"raw_author_name":"Anne Grethe Myhre","raw_affiliation_strings":["Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen, Norway. Anne.Myhre@med.uib.no","Department of Paediatrics, Akershus Central Hospital, Nordbyhagen, Norway,","Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen, Norway. Anne.Myhre@med.uib.no","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Department of Paediatrics, Akershus Central Hospital, Nordbyhagen, Norway,","institution_ids":[]},{"raw_affiliation_string":"Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen,","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110192120","display_name":"Maria Halonen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Maria Halonen","raw_affiliation_strings":["Department of Human Molecular Genetics, Finland National Public Health Institute, Helsinki, Finland and","Hospital for Children and Adolescents, University of Helsinki,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Molecular Genetics, Finland National Public Health Institute, Helsinki, Finland and","institution_ids":[]},{"raw_affiliation_string":"Hospital for Children and Adolescents, University of Helsinki,","institution_ids":["https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068147807","display_name":"Petra M. Eskelin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Petra Eskelin","raw_affiliation_strings":["Department of Human Molecular Genetics, Finland National Public Health Institute, Helsinki, Finland and","Hospital for Children and Adolescents, University of Helsinki,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Molecular Genetics, Finland National Public Health Institute, Helsinki, Finland and","institution_ids":[]},{"raw_affiliation_string":"Hospital for Children and Adolescents, University of Helsinki,","institution_ids":["https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028168158","display_name":"Olov Ekwall","orcid":"https://orcid.org/0000-0002-4506-9955","observed_orcids":["https://orcid.org/0000-0002-4506-9955"]},"institutions":[{"id":"https://openalex.org/I1342360035","display_name":"Uppsala University Hospital","ror":"https://ror.org/01apvbh93","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1342360035"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Olov Ekwall","raw_affiliation_strings":["The Department of Medical Sciences, University Hospital, Uppsala, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Department of Medical Sciences, University Hospital, Uppsala, Sweden","institution_ids":["https://openalex.org/I1342360035"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013336601","display_name":"H\u00e5kan Hedstrand","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1342360035","display_name":"Uppsala University Hospital","ror":"https://ror.org/01apvbh93","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1342360035"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"H\u00e5kan Hedstrand","raw_affiliation_strings":["The Department of Medical Sciences, University Hospital, Uppsala, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Department of Medical Sciences, University Hospital, Uppsala, Sweden","institution_ids":["https://openalex.org/I1342360035"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021512169","display_name":"Fredrik Rorsman","orcid":"https://orcid.org/0000-0003-4023-9617","observed_orcids":["https://orcid.org/0000-0003-4023-9617"]},"institutions":[{"id":"https://openalex.org/I1342360035","display_name":"Uppsala University Hospital","ror":"https://ror.org/01apvbh93","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1342360035"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Fredrik Rorsman","raw_affiliation_strings":["The Department of Medical Sciences, University Hospital, Uppsala, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Department of Medical Sciences, University Hospital, Uppsala, Sweden","institution_ids":["https://openalex.org/I1342360035"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078801536","display_name":"Olle K\u00e4mpe","orcid":"https://orcid.org/0000-0001-6091-9914","observed_orcids":["https://orcid.org/0000-0001-6091-9914"]},"institutions":[{"id":"https://openalex.org/I1342360035","display_name":"Uppsala University Hospital","ror":"https://ror.org/01apvbh93","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1342360035"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Olle K\u00e4mpe","raw_affiliation_strings":["The Department of Medical Sciences, University Hospital, Uppsala, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Department of Medical Sciences, University Hospital, Uppsala, Sweden","institution_ids":["https://openalex.org/I1342360035"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5060877182","display_name":"Eystein S. Husebye","orcid":"https://orcid.org/0000-0002-7886-2976","observed_orcids":["https://orcid.org/0000-0002-7886-2976"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Eystein S. Husebye","raw_affiliation_strings":["Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen,","institution_ids":["https://openalex.org/I2800740805"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5111946033"],"corresponding_institution_ids":["https://openalex.org/I2800740805"],"apc_list":{"value":4250,"currency":"USD","value_usd":4250},"apc_paid":null,"fwci":5.9468,"has_fulltext":false,"cited_by_count":151,"citation_normalized_percentile":{"value":0.97015952,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"54","issue":"2","first_page":"211","last_page":"217"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12421","display_name":"Adrenal Hormones and Disorders","score":0.6646000146865845,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T12421","display_name":"Adrenal Hormones and Disorders","score":0.6646000146865845,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.33149999380111694,"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/T11171","display_name":"Diabetes and associated disorders","score":0.0006000000284984708,"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/autoimmune-polyendocrine-syndrome-type-1","display_name":"autoimmune polyendocrine syndrome type 1","score":0.9860000014305115},{"id":"https://openalex.org/keywords/aire-gene-mutation","display_name":"AIRE gene mutation","score":0.9269999861717224},{"id":"https://openalex.org/keywords/autoantibodies","display_name":"autoantibodies","score":0.9559999704360962},{"id":"https://openalex.org/keywords/21-hydroxylase","display_name":"21-hydroxylase","score":0.8289999961853027},{"id":"https://openalex.org/keywords/aromatic-l-amino-acid-decarboxylase","display_name":"aromatic L-amino acid decarboxylase","score":0.9739999771118164},{"id":"https://openalex.org/keywords/ovarian-failure","display_name":"ovarian failure","score":0.7820000052452087},{"id":"https://openalex.org/keywords/adrenal-insufficiency","display_name":"adrenal insufficiency","score":0.878000020980835},{"id":"https://openalex.org/keywords/chronic-mucocutaneous-candidiasis","display_name":"chronic mucocutaneous candidiasis","score":0.9319999814033508},{"id":"https://openalex.org/keywords/hypoparathyroidism","display_name":"hypoparathyroidism","score":0.9350000023841858},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.6430000066757202},{"id":"https://openalex.org/keywords/prevalence","display_name":"prevalence","score":0.7689999938011169},{"id":"https://openalex.org/keywords/norwegian-patients","display_name":"Norwegian patients","score":0.796999990940094}],"concepts":[{"id":"https://openalex.org/C2776566471","wikidata":"https://www.wikidata.org/wiki/Q2872459","display_name":"Autoimmune regulator","level":4,"score":0.725732147693634},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6645315885543823},{"id":"https://openalex.org/C163764329","wikidata":"https://www.wikidata.org/wiki/Q785022","display_name":"Autoantibody","level":3,"score":0.6007106900215149},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5593060255050659},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.5441641807556152},{"id":"https://openalex.org/C2778129406","wikidata":"https://www.wikidata.org/wiki/Q2507454","display_name":"Adrenal insufficiency","level":2,"score":0.49790382385253906},{"id":"https://openalex.org/C63428231","wikidata":"https://www.wikidata.org/wiki/Q9043","display_name":"Norwegian","level":2,"score":0.4535544514656067},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.42239993810653687},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.35952597856521606},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3591395914554596},{"id":"https://openalex.org/C2779075594","wikidata":"https://www.wikidata.org/wiki/Q8084905","display_name":"Autoimmune disease","level":3,"score":0.35875004529953003},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.34796541929244995},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.3399863839149475},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000096927","descriptor_name":"AIRE Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001142","descriptor_name":"Aromatic-L-Amino-Acid Decarboxylases","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D001323","descriptor_name":"Autoantibodies","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"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":"D002786","descriptor_name":"Cholesterol Side-Chain Cleavage Enzyme","qualifier_ui":"Q000276","qualifier_name":"immunology","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009664","descriptor_name":"Norway","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D013255","descriptor_name":"Steroid 21-Hydroxylase","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016649","descriptor_name":"Primary Ovarian Insufficiency","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D016884","descriptor_name":"Polyendocrinopathies, Autoimmune","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016884","descriptor_name":"Polyendocrinopathies, Autoimmune","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D016884","descriptor_name":"Polyendocrinopathies, Autoimmune","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1046/j.1365-2265.2001.01201.x","doi":"https://doi.org/10.1046/j.1365-2265.2001.01201.x","is_oa":false,"landing_page_url":"https://doi.org/10.1046/j.1365-2265.2001.01201.x","pdf_url":null,"source":{"id":"https://openalex.org/S182143151","display_name":"Clinical Endocrinology","issn_l":"0300-0664","issn":["0300-0664","1365-2265"],"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-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Endocrinology","raw_type":"journal-article"},{"id":"pmid:11207636","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11207636","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":"Clinical endocrinology","raw_type":"Journal Article"},{"id":"pmh:oai:www.julkari.fi:10024/85956","doi":null,"is_oa":false,"landing_page_url":"http://www.julkari.fi/handle/10024/85956","pdf_url":null,"source":{"id":"https://openalex.org/S4306402058","display_name":"STM:n Hallinnonalan avoin julkaisuarkisto (Julkari)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"A"}],"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/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W1600116166","https://openalex.org/W1969614224","https://openalex.org/W1974439470","https://openalex.org/W1983858481","https://openalex.org/W2017421022","https://openalex.org/W2023259605","https://openalex.org/W2028222510","https://openalex.org/W2034877810","https://openalex.org/W2034937079","https://openalex.org/W2038184896","https://openalex.org/W2049629794","https://openalex.org/W2050040308","https://openalex.org/W2061206204","https://openalex.org/W2063733110","https://openalex.org/W2073566101","https://openalex.org/W2073688589","https://openalex.org/W2082966751","https://openalex.org/W2083737302","https://openalex.org/W2095315030","https://openalex.org/W2109615602","https://openalex.org/W2109900674","https://openalex.org/W2119438647","https://openalex.org/W2120593038","https://openalex.org/W2128857363","https://openalex.org/W2129043014","https://openalex.org/W2130784093","https://openalex.org/W2134975191","https://openalex.org/W2167340154","https://openalex.org/W2331919277"],"related_works":["https://openalex.org/W2055745336","https://openalex.org/W2162676892","https://openalex.org/W7128699167","https://openalex.org/W2609511782","https://openalex.org/W3162101532","https://openalex.org/W3029852505","https://openalex.org/W617578987","https://openalex.org/W2737137112","https://openalex.org/W2044471002","https://openalex.org/W4241159513"],"abstract_inverted_index":{"OBJECTIVE:":[0],"The":[1,111,143,269],"aim":[2],"of":[3,82,113,133,153,171,177,211,216,231,243,296,301,314],"the":[4,34,80,130,154,156,178,186,192,203,212,217,302,311,315],"present":[5,207],"study":[6],"was":[7,71,118,145,202],"to":[8,22,120,291],"investigate":[9],"Norwegian":[10,41,193,255],"patients":[11,42,75,157,173,218,256,262],"with":[12,20,46,162,257,280],"autoimmune":[13,35,284],"polyendocrine":[14],"syndrome":[15],"type":[16],"I":[17,48,115,259,272],"(APS":[18],"I),":[19],"respect":[21],"occurrence":[23],"and":[24,31,76,84,100,241,265,278,298],"clinical":[25],"presentation,":[26],"reactivity":[27],"towards":[28],"different":[29,183],"autoantigenes":[30],"mutations":[32,103,184],"in":[33,66,97,116,140,147,160,185,191,198,208,276,289,310],"regulator":[36],"(AIRE)":[37],"gene.":[38],"PATIENTS:":[39],"Twenty":[40],"from":[43,73,263],"15":[44],"families":[45],"APS":[47,114,258,271],"(11":[49],"males,":[50],"nine":[51],"females;":[52],"mean":[53],"age":[54],"26":[55],"years,":[56],"range":[57],"4--54)":[58],"were":[59,88,104,158,189],"included":[60],"by":[61,79,96,106],"contacting":[62],"all":[63,242],"major":[64],"hospitals":[65],"Norway.":[67],"METHODS:":[68],"Clinical":[69],"data":[70],"collected":[72],"both":[74],"their":[77],"physicians":[78],"use":[81],"questionnaires":[83],"patient":[85],"records.":[86],"Autoantibodies":[87],"analysed":[89],"using":[90],"radioimmunoassays":[91],"based":[92],"on":[93],"antigen":[94],"synthesized":[95],"vitro":[98],"transcription":[99],"translation.":[101],"AIRE":[102,187,303],"determined":[105],"DNA":[107],"sequence":[108],"analysis.":[109],"RESULTS:":[110],"prevalence":[112],"Norway":[117],"estimated":[119],"be":[121,274],"about":[122,129],"1":[123],":":[124],"80,000":[125],"individuals.":[126,149],"We":[127],"found":[128,190],"same":[131],"distribution":[132],"disease":[134,180],"characteristics":[135],"as":[136],"has":[137],"been":[138],"reported":[139],"Finnish":[141],"patients.":[142],"diagnosis":[144,270],"delayed":[146],"many":[148],"In":[150],"two":[151],"thirds":[152],"cases,":[155],"admitted":[159],"Hospital":[161],"acute":[163],"adrenal":[164],"insufficiency":[165],"or":[166,225,287],"hypocalcaemic":[167],"crisis.":[168],"Forty":[169],"percent":[170,215],"these":[172,244],"already":[174],"had":[175,219,238,245],"one":[176],"main":[179],"manifestations.":[181],"Four":[182],"gene":[188,304],"cohort.":[194],"A":[195],"13-bp":[196],"deletion":[197],"exon":[199],"8":[200],"(1085--1097(del))":[201],"most":[204],"frequent":[205],"mutation,":[206],"22/40":[209],"(55%)":[210],"alleles.":[213],"Eighty-five":[214],"either":[220],"autoantibodies":[221,297],"against":[222,247],"21":[223],"hydroxylase":[224],"aromatic":[226],"L-amino":[227],"acid":[228],"decarboxylase.":[229],"Five":[230],"eight":[232],"women":[233],"(age":[234],">":[235],"13":[236],"years)":[237],"ovarian":[239],"failure,":[240],"antibodies":[246],"side-chain":[248],"cleavage":[249],"enzyme":[250],"(P":[251],"=":[252],"0.0002).":[253],"CONCLUSION:":[254],"clinically":[260],"resemble":[261],"Finland":[264],"other":[266],"European":[267],"countries.":[268],"must":[273],"considered":[275],"children":[277],"adolescents":[279],"chronic":[281],"mucocutaneous":[282],"candidiasis,":[283],"adrenocortical":[285],"failure":[286],"hypoparathyroidism":[288],"order":[290],"avoid":[292],"fatal":[293],"complications.":[294],"Analysis":[295],"mutational":[299],"analysis":[300],"are":[305],"valuable":[306],"diagnostic":[307],"tools,":[308],"especially":[309],"early":[312],"stages":[313],"disease.":[316]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":11},{"year":2013,"cited_by_count":9},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
