{"id":"https://openalex.org/W2035774841","doi":"https://doi.org/10.1590/s0004-27302012000800019","title":"Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism","display_name":"Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism","publication_year":2012,"publication_date":"2012-11-01","ids":{"openalex":"https://openalex.org/W2035774841","doi":"https://doi.org/10.1590/s0004-27302012000800019","mag":"2035774841","pmid":"https://pubmed.ncbi.nlm.nih.gov/23295301"},"language":"en","primary_location":{"id":"doi:10.1590/s0004-27302012000800019","doi":"https://doi.org/10.1590/s0004-27302012000800019","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-27302012000800019","pdf_url":"https://www.scielo.br/j/abem/a/6BKfvhDtpJ5FzK9FM8Vgdxy/?lang=en&format=pdf","source":{"id":"https://openalex.org/S15262226","display_name":"Arquivos Brasileiros de Endocrinologia & Metabologia","issn_l":"0004-2730","issn":["0004-2730","1677-9487"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1"],"host_organization":"https://openalex.org/P4310319680","host_organization_name":"Editora da Universidade de S\u00e3o Paulo","host_organization_lineage":["https://openalex.org/P4310319680"],"host_organization_lineage_names":["Editora da Universidade de S\u00e3o Paulo"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos Brasileiros de Endocrinologia &amp; Metabologia","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.scielo.br/j/abem/a/6BKfvhDtpJ5FzK9FM8Vgdxy/?lang=en&format=pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5077410197","display_name":"Patr\u00edcia B. Mory","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I88273585","display_name":"Universidade Federal de S\u00e3o Paulo","ror":"https://ror.org/02k5swt12","country_code":"BR","type":"education","lineage":["https://openalex.org/I88273585"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Patricia B. Mory","raw_affiliation_strings":["Universidade Federal de S\u00e3o Paulo,  Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de S\u00e3o Paulo,  Brazil","institution_ids":["https://openalex.org/I88273585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067063791","display_name":"M\u00e1rcia Costa dos Santos","orcid":"https://orcid.org/0000-0003-0452-7451","observed_orcids":["https://orcid.org/0000-0003-0452-7451"]},"institutions":[{"id":"https://openalex.org/I88273585","display_name":"Universidade Federal de S\u00e3o Paulo","ror":"https://ror.org/02k5swt12","country_code":"BR","type":"education","lineage":["https://openalex.org/I88273585"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Marcia C. dos Santos","raw_affiliation_strings":["Universidade Federal de S\u00e3o Paulo,  Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de S\u00e3o Paulo,  Brazil","institution_ids":["https://openalex.org/I88273585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011511730","display_name":"Claudio Elias Kater","orcid":"https://orcid.org/0000-0002-4350-1070","observed_orcids":["https://orcid.org/0000-0002-4350-1070"]},"institutions":[{"id":"https://openalex.org/I88273585","display_name":"Universidade Federal de S\u00e3o Paulo","ror":"https://ror.org/02k5swt12","country_code":"BR","type":"education","lineage":["https://openalex.org/I88273585"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Claudio E. Kater","raw_affiliation_strings":["Universidade Federal de S\u00e3o Paulo,  Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de S\u00e3o Paulo,  Brazil","institution_ids":["https://openalex.org/I88273585"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5064210488","display_name":"Regina S. Mois\u00e9s","orcid":"https://orcid.org/0000-0002-9048-068X","observed_orcids":["https://orcid.org/0000-0002-9048-068X"]},"institutions":[{"id":"https://openalex.org/I88273585","display_name":"Universidade Federal de S\u00e3o Paulo","ror":"https://ror.org/02k5swt12","country_code":"BR","type":"education","lineage":["https://openalex.org/I88273585"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Regina S. Mois\u00e9s","raw_affiliation_strings":["Universidade Federal de S\u00e3o Paulo,  Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de S\u00e3o Paulo,  Brazil","institution_ids":["https://openalex.org/I88273585"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I88273585"],"apc_list":null,"apc_paid":null,"fwci":0.1049,"has_fulltext":true,"cited_by_count":12,"citation_normalized_percentile":{"value":0.39526234,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"56","issue":"8","first_page":"574","last_page":"577"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9193999767303467,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9193999767303467,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.014700000174343586,"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/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.005400000140070915,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hyporeninemic-hypoaldosteronism","display_name":"hyporeninemic hypoaldosteronism","score":0.9430000185966492},{"id":"https://openalex.org/keywords/mtdna-mutations","display_name":"mitochondrial DNA mutations","score":0.5529999732971191},{"id":"https://openalex.org/keywords/m-3243a-g","display_name":"m.3243A>G","score":0.9850000143051147},{"id":"https://openalex.org/keywords/monogenic-diabetes","display_name":"monogenic diabetes","score":0.9210000038146973},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.8019999861717224},{"id":"https://openalex.org/keywords/sensorineural-hearing-loss","display_name":"sensorineural hearing loss","score":0.8270000219345093}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5775763392448425},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.5690945982933044},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.562310516834259},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4893921911716461},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.4843486547470093},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3652727007865906},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.31206244230270386},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.30199554562568665}],"mesh":[{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006994","descriptor_name":"Hypoaldosteronism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1590/s0004-27302012000800019","doi":"https://doi.org/10.1590/s0004-27302012000800019","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-27302012000800019","pdf_url":"https://www.scielo.br/j/abem/a/6BKfvhDtpJ5FzK9FM8Vgdxy/?lang=en&format=pdf","source":{"id":"https://openalex.org/S15262226","display_name":"Arquivos Brasileiros de Endocrinologia & Metabologia","issn_l":"0004-2730","issn":["0004-2730","1677-9487"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1"],"host_organization":"https://openalex.org/P4310319680","host_organization_name":"Editora da Universidade de S\u00e3o Paulo","host_organization_lineage":["https://openalex.org/P4310319680"],"host_organization_lineage_names":["Editora da Universidade de S\u00e3o Paulo"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos Brasileiros de Endocrinologia &amp; Metabologia","raw_type":"journal-article"},{"id":"pmid:23295301","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23295301","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":"Arquivos brasileiros de endocrinologia e metabologia","raw_type":"Case Reports"},{"id":"pmh:oai:scielo:S0004-27302012000800019","doi":null,"is_oa":true,"landing_page_url":"http://old.scielo.br/scielo.php?script=sci_arttext&amp;pid=S0004-27302012000800019","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos Brasileiros de Endocrinologia &amp;amp; Metabologia v.56 n.8 2012","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:americanae.aecid.es:2621113","doi":null,"is_oa":true,"landing_page_url":"http://americanae.aecid.es/americanae/es/registros/registro.do?tipoRegistro=MTD&idBib=2621113","pdf_url":null,"source":{"id":"https://openalex.org/S4306400786","display_name":"Americanae (AECID Library)","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Arquivos Brasileiros de Endocrinologia &amp;amp; Metabologia v.56 n.8 2012","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:americanae.aecid.es:2784998","doi":null,"is_oa":true,"landing_page_url":"http://americanae.aecid.es/americanae/es/registros/registro.do?tipoRegistro=MTD&idBib=2784998","pdf_url":null,"source":{"id":"https://openalex.org/S4306400786","display_name":"Americanae (AECID Library)","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"reponame:Reposit\u00f3rio Institucional da UNIFESP","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:repositorio.unifesp.br:11600/7383","doi":null,"is_oa":true,"landing_page_url":"http://repositorio.unifesp.br/handle/11600/7383","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"instacron:UNIFESP","raw_type":"info:eu-repo/semantics/article"},{"id":"mag:2155590973","doi":null,"is_oa":false,"landing_page_url":"http://www.aem-sbem.com/media/uploads/19_ABEM_568.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"doi:10.1590/s0004-27302012000800019","doi":"https://doi.org/10.1590/s0004-27302012000800019","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-27302012000800019","pdf_url":"https://www.scielo.br/j/abem/a/6BKfvhDtpJ5FzK9FM8Vgdxy/?lang=en&format=pdf","source":{"id":"https://openalex.org/S15262226","display_name":"Arquivos Brasileiros de Endocrinologia & Metabologia","issn_l":"0004-2730","issn":["0004-2730","1677-9487"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1"],"host_organization":"https://openalex.org/P4310319680","host_organization_name":"Editora da Universidade de S\u00e3o Paulo","host_organization_lineage":["https://openalex.org/P4310319680"],"host_organization_lineage_names":["Editora da Universidade de S\u00e3o Paulo"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos Brasileiros de Endocrinologia &amp; Metabologia","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"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":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2035774841.pdf","grobid_xml":"https://content.openalex.org/works/W2035774841.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W45511041","https://openalex.org/W1494007673","https://openalex.org/W1559481538","https://openalex.org/W1969174185","https://openalex.org/W1984884461","https://openalex.org/W1992600669","https://openalex.org/W1994423115","https://openalex.org/W2009521188","https://openalex.org/W2022985565","https://openalex.org/W2027321097","https://openalex.org/W2030254762","https://openalex.org/W2032965596","https://openalex.org/W2035068939","https://openalex.org/W2037880185","https://openalex.org/W2043015105","https://openalex.org/W2044550077","https://openalex.org/W2046766167","https://openalex.org/W2049855094","https://openalex.org/W2069661122","https://openalex.org/W2072200020","https://openalex.org/W2074222541","https://openalex.org/W2077652691","https://openalex.org/W2078479092","https://openalex.org/W2101260083","https://openalex.org/W2126964454","https://openalex.org/W2131783890","https://openalex.org/W2135664698","https://openalex.org/W2145233689","https://openalex.org/W2169961985"],"related_works":["https://openalex.org/W2155590973","https://openalex.org/W2022414864","https://openalex.org/W3132296674","https://openalex.org/W4286493916","https://openalex.org/W4386713966","https://openalex.org/W2096896720","https://openalex.org/W3117937888","https://openalex.org/W4385817835","https://openalex.org/W1979135998","https://openalex.org/W2433888871"],"abstract_inverted_index":{"Maternally-inherited":[0],"diabetes":[1,11,45],"with":[2,61,81],"deafness":[3],"(MIDD)":[4],"is":[5,41,56],"a":[6,79],"rare":[7],"form":[8],"of":[9,24,53,64,70,78],"monogenic":[10],"that":[12],"results,":[13],"in":[14,28],"most":[15],"cases,":[16],"from":[17],"an":[18],"A-to-G":[19],"transition":[20],"at":[21],"position":[22],"3243":[23],"mitochondrial":[25,54],"DNA":[26],"(m.3243A>G)":[27],"the":[29,36,57,62,68,71,76],"mitochondrial-encoded":[30],"tRNA":[31],"leucine":[32],"(UUA/G)":[33],"gene.":[34],"As":[35],"name":[37],"suggests,":[38],"this":[39],"condition":[40],"characterized":[42],"by":[43],"maternally-inherited":[44],"and":[46],"bilateral":[47],"neurosensory":[48],"hearing":[49],"impairment.":[50],"A":[51],"characteristic":[52],"cytopathies":[55],"progressive":[58],"multisystemic":[59],"involvement":[60],"development":[63],"more":[65],"symptoms":[66],"during":[67],"course":[69],"disease.":[72],"We":[73],"report":[74],"here":[75],"case":[77],"patient":[80],"MIDD":[82],"who":[83],"developed":[84],"hyporeninemic":[85],"hypoaldosteronism.":[86]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
