https://m2.mtmt.hu/ hun 2026-05-02 09:47 JournalArticle 1233481 VALIDATED true 0 2018-10-02T08:54:25.000+0000 false 1233481 2025-12-19T22:25:21.222+0000 2025-07-01T20:35:45.730+0000 2009-05-21T22:00:00.000+0000 true 10000530 Prohászka Zoltán /api/author/10000530 Author true 10000530 2025-07-01T20:35:45.947+0000 2025-07-01T20:35:45.947+0000 2025-05-09T11:29:35.673+0000 true 10067876 Ladányi Gusztáv /api/admin/10067876 Admin true Admin 10067876 /api/admin/10067876 Ladányi Gusztáv true true Admin 10080105 /api/admin/10080105 Kériné Tornyi Katalin true true 2024-10-17T16:18:31.199+0000 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Hosszufalusi, N A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern. true true /api/journal/10008996 REVIEWED true false 10008996 false 10008996 true 1520-7552 1520-7560 Journal FOREIGN 25 2 127 135 127 9 2009 BACKGROUND: This article presents a clinically characterization of the mitochondrial DNA mutation (A3243G) associated with maternally inherited diabetes and deafness (MIDD) syndrome in two families. METHODS: Six patients with MIDD and one mutation-positive relative with normal glucose tolerance (NGT) were examined. Fasting serum C-peptide was measured in all subjects and compared with controls having NGT (n = 14). C-peptide response to an intravenous glucose tolerance test (IVGTT) was investigated in the diabetic patients not treated with insulin (n = 3) and in the mutation-positive healthy individual and compared with the controls. RESULTS: The A3243G heteroplasmy value varied between 5 and 30%. All A3243G carriers had HLA-DR1-DQ5 haplotype, and either the -DQ5 or the -DQ6 allele. The fasting and the serum C-peptide levels at 120 min during the IVGTT did not differ between the A3243G carriers and the controls. A missing first phase and a decreased total C-peptide response was detected in the mutation-positive diabetics compared with controls (p < 0.0001). The same abnormality was found in the A3243G carrier with NGT. Circulating islet cell antibody (ICA) was present in three patients with MIDD. Glutamic acid decarboxylase (GAD), tyrosine phosphatase-like protein IA-2 (IA-2) and mitochondrial antibodies were missing. The diagnosis of MIDD was delayed in each case. CONCLUSIONS: A missing first phase and a decreased total C-peptide response during an IVGTT was characteristic for the A3243G mutation. The fasting C-peptide level of the carriers did not differ from the controls. Circulating ICA was present in some patients, but GAD, IA-2 and mitochondrial antibodies were absent. All subjects had HLA-DR1-DQ5 haplotype, and either -DQ5 or -DQ6 alleles. 2009 true true true false true false RESTRICTED 2025-12-19 false true 10000530 Prohászka Zoltán /api/author/10000530 Author true 10000530 11 0 11 10 1 10 8 9 11 11 11 10 10 10 1 0 11 10 11 10 0 1 1 Folyóiratcikk Journal Article 24 11 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2010 0 3 2 3 2 2011 0 0 0 0 0 2012 0 1 1 1 1 2013 0 1 1 1 1 2014 0 1 1 1 1 2015 0 0 0 0 0 2016 0 1 1 1 1 2017 0 1 1 1 1 2018 0 0 0 0 0 2019 0 1 1 1 1 2020 0 0 0 0 0 2021 0 1 1 1 1 2022 0 0 0 0 0 2023 0 0 0 0 0 2024 0 1 1 1 1 Q1 false 10020065,10003710 false false false 2013-12-10T15:40:59.000+0000 2012-10-30T16:06:30.000+0000 Akadémikus bibliográfia; III. Sz. Belgyógyászati Klinika (SE / AOK / K) 8 21 2 11 0 true 10080105 10067876 Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 773622 /api/authorship/773622 1 0.09090909 true false Author 10020065 /api/author/10020065 Hosszúfalusi Nóra true 10020065 true Hosszufalusi N true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 10752699 true PersonAuthorship 773623 /api/authorship/773623 2 0.09090909 false false Author 10009679 /api/author/10009679 Karcagi Veronika true 10009679 true Karcagi V true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 10752698 true PersonAuthorship 773624 /api/authorship/773624 3 0.09090909 false false Horvath R true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 10752697 true PersonAuthorship 773625 /api/authorship/773625 4 0.09090909 false false Author 10023833 /api/author/10023833 Palik Éva true 10023833 true Palik E true false false AuthorshipType 1 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/api/author/10000449 Karádi István true 10000449 true Karadi I true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 10752691 true PersonAuthorship 773631 /api/authorship/773631 10 0.09090909 false false Author 10001049 /api/author/10001049 Romics László true 10001049 true Romics L true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 10752690 true PersonAuthorship 773632 /api/authorship/773632 11 0.09090909 false true Author 10003710 /api/author/10003710 Pánczél Pál true 10003710 true Panczel P true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 10752689 true Institute 19040 /api/institute/19040 0 false false true Akadémikus bibliográfia Bibliografy of Hungarian of Academy of Sciences' academicians true 19040 true PublicationIdentifier 221128 /api/publicationidentifier/221128 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ 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/api/classificationexternal/1310 true 1310 true Q1 DIRECT true 5786921 true /api/publication/1233481 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10020065"><a href="/gui2/?type=authors&mode=browse&sel=10020065" target="_blank">Hosszufalusi N (<span class="authorship-author-name">Hosszúfalusi Nóra</span> <span class="authorAux-mtmt"> Belgyógyászat, Diabetológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/III. Sz. Belgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10009679"><a href="/gui2/?type=authors&mode=browse&sel=10009679" target="_blank">Karcagi V (<span class="authorship-author-name">Karcagi Veronika</span> <span class="authorAux-mtmt"> Klinikai genetika</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Horvath R </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10023833"><a href="/gui2/?type=authors&mode=browse&sel=10023833" target="_blank">Palik E (<span class="authorship-author-name">Palik Éva</span> <span class="authorAux-mtmt"> belgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/III. Sz. Belgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10015647"><a href="/gui2/?type=authors&mode=browse&sel=10015647" target="_blank">Varkonyi J (<span class="authorship-author-name">Várkonyi Judit</span> <span class="authorAux-mtmt"> hematologia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/III. Sz. Belgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Rajczy K </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000530"><a href="/gui2/?type=authors&mode=browse&sel=10000530" target="_blank">Prohaszka Z (<span class="authorship-author-name">Prohászka Zoltán</span> <span class="authorAux-mtmt"> Immunológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/III. Sz. Belgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Szentirmai C </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000449"><a href="/gui2/?type=authors&mode=browse&sel=10000449" target="_blank">Karadi I (<span class="authorship-author-name">Karádi István</span> <span class="authorAux-mtmt"> Endokrinológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/III. Sz. Belgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10001049"><a href="/gui2/?type=authors&mode=browse&sel=10001049" target="_blank">Romics L (<span class="authorship-author-name">Romics László</span> <span class="authorAux-mtmt"> Belgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/III. Sz. Belgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10003710"><a href="/gui2/?type=authors&mode=browse&sel=10003710" target="_blank">Panczel P (<span class="authorship-author-name">Pánczél Pál</span> <span class="authorAux-mtmt"> Belgyógyászat, diabetológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/III. Sz. Belgyógyászati Klinika</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;1233481" target="_blank">A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern.</a></div> <div> <span class="journal-title">DIABETES-METABOLISM RESEARCH AND REVIEWS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1520-7552">1520-7552</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1520-7560">1520-7560</a>)</span>: <span class="journal-volume">25</span> <span class="journal-issue">2</span> <span class="page"> pp 127-135 </span> <span class="year">(2009)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1002/dmrr.841" target="_blank" href="https://doi.org/10.1002/dmrr.841"> DOI </a> </span> <span class="id identifier oa_RESTRICTED" title=" Korlátozott "> <a style="color:black" title="6385" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/6385"> SE Repozitórium </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000264000200003" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000264000200003"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="65549148928" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-65549148928"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="19116951" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19116951&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Endocrinology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Endocrinology, Diabetes and Metabolism&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Internal Medicine&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 11</span> | Független: 10 | Függő: 1 | Nem jelölt: 0 | WoS jelölt: 9 | Scopus jelölt:&nbsp;11 | WoS/Scopus jelölt:&nbsp;11 | DOI jelölt:&nbsp;8 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;1233481&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 1233481</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> <span class="oldId">Régi azonosító: 1233481</span> | Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">MEDLINE</span> </div> <div class="special-affiliations"> Speciális affiliáció: Akadémikus bibliográfia </div> <div class="lastModified">Utolsó módosítás: 2025.07.01. 22:35 Ladányi Gusztáv (MTMT API user, admin) </div> <div class="lockedBy">Központi kezelésű 2024.10.17. 18:18 Ladányi Gusztáv (MTMT API user, admin) Kériné Tornyi Katalin (MTMT ellenőrzés admin5) </div> </div></div>