{"id":"https://openalex.org/W2005758346","doi":"https://doi.org/10.1007/s00296-011-2180-8","title":"Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children","display_name":"Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children","publication_year":2011,"publication_date":"2011-10-29","ids":{"openalex":"https://openalex.org/W2005758346","doi":"https://doi.org/10.1007/s00296-011-2180-8","mag":"2005758346","pmid":"https://pubmed.ncbi.nlm.nih.gov/22038276"},"language":"en","primary_location":{"id":"doi:10.1007/s00296-011-2180-8","doi":"https://doi.org/10.1007/s00296-011-2180-8","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00296-011-2180-8","pdf_url":null,"source":{"id":"https://openalex.org/S50823678","display_name":"Rheumatology International","issn_l":"0172-8172","issn":["0172-8172","1437-160X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rheumatology International","raw_type":"journal-article"},"volume":null,"type":"article","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/A5068637996","display_name":"Elke Lainka","orcid":"https://orcid.org/0000-0002-7624-2968","observed_orcids":["https://orcid.org/0000-0002-7624-2968"]},"institutions":[{"id":"https://openalex.org/I62318514","display_name":"University of Duisburg-Essen","ror":"https://ror.org/04mz5ra38","country_code":"DE","type":"education","lineage":["https://openalex.org/I62318514"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"E. Lainka","raw_affiliation_strings":["Department of Paediatric Rheumatology, Children's Hospital, University Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany. elke.lainka@uni-due.de","Department of Paediatric Rheumatology, Children's Hospital, University Duisburg-Essen, Essen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Children's Hospital, University Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany. elke.lainka@uni-due.de","institution_ids":["https://openalex.org/I62318514"]},{"raw_affiliation_string":"Department of Paediatric Rheumatology, Children's Hospital, University Duisburg-Essen, Essen, Germany","institution_ids":["https://openalex.org/I62318514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109160957","display_name":"Ulrich Neudorf","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I62318514","display_name":"University of Duisburg-Essen","ror":"https://ror.org/04mz5ra38","country_code":"DE","type":"education","lineage":["https://openalex.org/I62318514"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"U. Neudorf","raw_affiliation_strings":["Department of Paediatric Rheumatology, Children\u2019s Hospital, University Duisburg-Essen, Hufelandstr. 55, 45147, Essen, Germany","Department of Paediatric Rheumatology, Children's Hospital, University Duisburg-Essen, Essen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Children\u2019s Hospital, University Duisburg-Essen, Hufelandstr. 55, 45147, Essen, Germany","institution_ids":["https://openalex.org/I62318514"]},{"raw_affiliation_string":"Department of Paediatric Rheumatology, Children's Hospital, University Duisburg-Essen, Essen, Germany","institution_ids":["https://openalex.org/I62318514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113568402","display_name":"Philipp Lohse","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P. Lohse","raw_affiliation_strings":["Department of Molecular Medicine, Institute for Laboratory Medicine, Blessing and colleagues, Singen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, Institute for Laboratory Medicine, Blessing and colleagues, Singen, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030713846","display_name":"Christian Timmann","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I94402716","display_name":"Bernhard Nocht Institute for Tropical Medicine","ror":"https://ror.org/01evwfd48","country_code":"DE","type":"facility","lineage":["https://openalex.org/I315704651","https://openalex.org/I94402716"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"C. Timmann","raw_affiliation_strings":["Department of Molecular Medicine, Bernhard Nocht Institute for Tropical Medicine, Hamburg, Germany","Department of Molecular Medicine, Bernhard-Nocht Institute for Tropical Medicine, Hamburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, Bernhard Nocht Institute for Tropical Medicine, Hamburg, Germany","institution_ids":["https://openalex.org/I94402716"]},{"raw_affiliation_string":"Department of Molecular Medicine, Bernhard-Nocht Institute for Tropical Medicine, Hamburg, Germany","institution_ids":["https://openalex.org/I94402716"]}]},{"author_position":"middle","author":{"id":null,"display_name":"M. Bielak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I62318514","display_name":"University of Duisburg-Essen","ror":"https://ror.org/04mz5ra38","country_code":"DE","type":"education","lineage":["https://openalex.org/I62318514"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"M. Bielak","raw_affiliation_strings":["Department of Paediatric Rheumatology, Children\u2019s Hospital, University Duisburg-Essen, Hufelandstr. 55, 45147, Essen, Germany","Department of Paediatric Rheumatology, Children's Hospital, University Duisburg-Essen, Essen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Children\u2019s Hospital, University Duisburg-Essen, Hufelandstr. 55, 45147, Essen, Germany","institution_ids":["https://openalex.org/I62318514"]},{"raw_affiliation_string":"Department of Paediatric Rheumatology, Children's Hospital, University Duisburg-Essen, Essen, Germany","institution_ids":["https://openalex.org/I62318514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085999156","display_name":"SILVIA STOJANOV","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"S. Stojanov","raw_affiliation_strings":["Department of Infectious Diseases and Immunology, Children\u2019s Hospital, University of Munich, Munich, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Infectious Diseases and Immunology, Children\u2019s Hospital, University of Munich, Munich, Germany","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108504942","display_name":"K Hu\u00df","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"K. Huss","raw_affiliation_strings":["Department of Infectious Diseases and Immunology, Children\u2019s Hospital, University of Munich, Munich, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Infectious Diseases and Immunology, Children\u2019s Hospital, University of Munich, Munich, Germany","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030458295","display_name":"R\u00fcdiger von Kries","orcid":"https://orcid.org/0000-0003-3646-0714","observed_orcids":["https://orcid.org/0000-0003-3646-0714"]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"R. von Kries","raw_affiliation_strings":["Institute of Social Paediatrics and Adolescent Medicine, University of Munich, Munich, Germany","Institute of Social Paediatrics and Adolescent Medicine University of Munich Munich Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Social Paediatrics and Adolescent Medicine, University of Munich, Munich, Germany","institution_ids":["https://openalex.org/I8204097"]},{"raw_affiliation_string":"Institute of Social Paediatrics and Adolescent Medicine University of Munich Munich Germany","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045822524","display_name":"Tim Niehues","orcid":"https://orcid.org/0000-0002-9945-8833","observed_orcids":["https://orcid.org/0000-0002-9945-8833"]},"institutions":[{"id":"https://openalex.org/I4210103130","display_name":"Helios Klinikum Krefeld","ror":"https://ror.org/01be19w37","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103130","https://openalex.org/I4210138940"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"T. Niehues","raw_affiliation_strings":["Department of Paediatrics, HELIOS-Klinikum Krefeld, Krefeld, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, HELIOS-Klinikum Krefeld, Krefeld, Germany","institution_ids":["https://openalex.org/I4210103130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5068637996"],"corresponding_institution_ids":["https://openalex.org/I62318514"],"apc_list":{"value":4990,"currency":"USD","value_usd":4990},"apc_paid":null,"fwci":0.705,"has_fulltext":false,"cited_by_count":40,"citation_normalized_percentile":{"value":0.66783362,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"32","issue":"10","first_page":"3253","last_page":"3260"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.9922000169754028,"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/T11078","display_name":"Inflammasome and immune disorders","score":0.9922000169754028,"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/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.0032999999821186066,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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":0.0027000000700354576,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/autoinflammatory-disease","display_name":"autoinflammatory disease","score":0.8619999885559082},{"id":"https://openalex.org/keywords/hereditary-recurrent-fever","display_name":"hereditary recurrent fever","score":0.8790000081062317},{"id":"https://openalex.org/keywords/incidence","display_name":"incidence","score":0.9020000100135803},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8119999766349792},{"id":"https://openalex.org/keywords/german-children","display_name":"German children","score":0.6370000243186951},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.6869999766349792},{"id":"https://openalex.org/keywords/fever-episodes","display_name":"fever episodes","score":0.35499998927116394}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8825995922088623},{"id":"https://openalex.org/C61511704","wikidata":"https://www.wikidata.org/wiki/Q1671857","display_name":"Incidence (geometry)","level":2,"score":0.7537556886672974},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.6046643257141113},{"id":"https://openalex.org/C2780955771","wikidata":"https://www.wikidata.org/wiki/Q183425","display_name":"Abdominal pain","level":2,"score":0.552358865737915},{"id":"https://openalex.org/C2779537928","wikidata":"https://www.wikidata.org/wiki/Q1144618","display_name":"Familial Mediterranean fever","level":3,"score":0.5408636927604675},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.48407331109046936},{"id":"https://openalex.org/C107130276","wikidata":"https://www.wikidata.org/wiki/Q133805","display_name":"Epidemiology","level":2,"score":0.45670223236083984},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.17142215371131897},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C120665830","wikidata":"https://www.wikidata.org/wiki/Q14620","display_name":"Optics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"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":"D002675","descriptor_name":"Child, Preschool","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":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D005260","descriptor_name":"Female","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":"D005858","descriptor_name":"Germany","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D005858","descriptor_name":"Germany","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D005858","descriptor_name":"Germany","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D006801","descriptor_name":"Humans","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","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":"D008297","descriptor_name":"Male","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011795","descriptor_name":"Surveys and Questionnaires","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011795","descriptor_name":"Surveys and Questionnaires","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011795","descriptor_name":"Surveys and Questionnaires","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017853","descriptor_name":"Phosphotransferases (Alcohol Group Acceptor)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017853","descriptor_name":"Phosphotransferases (Alcohol Group Acceptor)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017853","descriptor_name":"Phosphotransferases (Alcohol Group Acceptor)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s00296-011-2180-8","doi":"https://doi.org/10.1007/s00296-011-2180-8","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00296-011-2180-8","pdf_url":null,"source":{"id":"https://openalex.org/S50823678","display_name":"Rheumatology International","issn_l":"0172-8172","issn":["0172-8172","1437-160X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rheumatology International","raw_type":"journal-article"},{"id":"pmid:22038276","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22038276","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":"Rheumatology international","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.8500000238418579,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W137223049","https://openalex.org/W206403293","https://openalex.org/W1596257295","https://openalex.org/W1964034086","https://openalex.org/W1966995137","https://openalex.org/W1970699514","https://openalex.org/W1971474062","https://openalex.org/W1995301898","https://openalex.org/W1996406934","https://openalex.org/W1999457427","https://openalex.org/W2004510613","https://openalex.org/W2021410391","https://openalex.org/W2035871745","https://openalex.org/W2050325225","https://openalex.org/W2078792375","https://openalex.org/W2092929307","https://openalex.org/W2095366378","https://openalex.org/W2099243390","https://openalex.org/W2101314055","https://openalex.org/W2110541143","https://openalex.org/W2123295934","https://openalex.org/W2133907587","https://openalex.org/W2133985329","https://openalex.org/W2139477279","https://openalex.org/W2139640011","https://openalex.org/W2146056184","https://openalex.org/W2151108542","https://openalex.org/W2153467733","https://openalex.org/W2160383915","https://openalex.org/W2170757962","https://openalex.org/W2396744140"],"related_works":["https://openalex.org/W2330842341","https://openalex.org/W2890228542","https://openalex.org/W2010099905","https://openalex.org/W2402538927","https://openalex.org/W2408973000","https://openalex.org/W1966458999","https://openalex.org/W2444108657","https://openalex.org/W1476192100","https://openalex.org/W2298321706","https://openalex.org/W2410620250"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":5},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":2}],"updated_date":"2026-10-19T09:35:57.686232","created_date":"2025-10-10T00:00:00"}