https://m2.mtmt.hu/ eng 2026-09-20 23:12 JournalArticle 34035872 VALIDATED true 0 false 2026-07-22T15:01:31.917+0000 2023-07-13T12:32:00.104+0000 2023-06-27T07:22:50.205+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 2024-02-16T23:47:00.017+0000 2023-07-05T07:39:55.080+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin true 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 Molnar, Maria Judit Case report The spectrum of SMPD1 pathogenic variants in Hungary true true /api/journal/10024601 REVIEWED true false 10024601 false 10024601 true 1664-8021 Journal FOREIGN 14 1158108 1158108 6 2023 Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. Acid sphingomyelinase deficiency is characterized by a spectrum of disease and is broadly divided into three types (ASMD type A, ASMD type A/B, and ASMD type B). More than 220 disease-associated SMPD1 variants have been reported, and genotype/phenotype correlations are limited. Here we report the first description of all six diagnosed acid sphingomyelinase deficiency cases in Hungary. Nine SMPD1 variants are present in this cohort, including 3 SMPD1 variants (G247D, M384R, and F572L), which have only been described in Hungarian patients. All described variants are deemed to be pathogenic. Eight of the variants are missense, and one is a frameshift variant. The treatment of an ASMD type A/B patient in this cohort using hematopoietic stem cell transplantation is also detailed. This study may help to support diagnosis, patient genetic counseling, and management of acid sphingomyelinase deficiency. Funding 2028199 /api/funding/2028199 false true Funding 2028200 /api/funding/2028200 false true Funding 2028201 /api/funding/2028201 false true true 2023 true true true false true false GOLD 2026-07-22 true https://doi.org/10.3389/fgene.2023.1158108 1 0 1 1 0 1 1 1 1 1 1 1 1 1 0 0 1 1 1 1 0 2 2 Folyóiratcikk Journal Article 24 1 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 2025 0 1 1 1 1 Q2 false 10002781 false false false 2023-06-26T07:29:36.757+0000 Bőr-, Nemikórtani és Bőronkológiai Klinika (SE / AOK / K); ELKH-SE Multi-Omikai Neurodegeneráció Kutatócso... (SE / AOK / I / GMRBI); Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I); Gyermekgyógyászati Intézet (DE / ÁOK); Gyermekgyógyászati Klinika (SE / AOK / K) 6 26 5 7 0 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 109084275 /api/authorship/109084275 1 0.143 true false true Author 10002781 /api/author/10002781 Molnár Mária Judit true 10002781 true Molnar Maria Judit true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109084276 /api/authorship/109084276 2 0.143 false false false Author 10072601 /api/author/10072601 Szlepák Tamás true true Szlepak Tamas true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109084277 /api/authorship/109084277 3 0.14285715 false false false Csürke Ildikó true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109084278 /api/authorship/109084278 4 0.14285715 false false false Author 10089077 /api/author/10089077 Lóth Szendile true true Loth Szendile true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109084279 /api/authorship/109084279 5 0.143 false false false Author 10038288 /api/author/10038288 Káposzta Rita Kinga true 10038288 true Káposzta Rita true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109084280 /api/authorship/109084280 6 0.143 false false false Author 10000682 /api/author/10000682 Erdős Melinda true 10000682 true Erdős Melinda true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109084281 /api/authorship/109084281 7 0.143 false true false Author 10022697 /api/author/10022697 Dezsőfi-Gottl Antal true 10022697 true Dezsőfi Antal true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 24088069 /api/publicationidentifier/24088069 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3389/fgene.2023.1158108 https://doi.org/10.3389/fgene.2023.1158108 false true PublicationIdentifier 24157747 /api/publicationidentifier/24157747 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 001015146700001 https://www.webofscience.com/wos/woscc/full-record/001015146700001 true true PublicationIdentifier 24114704 /api/publicationidentifier/24114704 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85162208313 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85162208313 true true PublicationIdentifier 24088068 /api/publicationidentifier/24088068 PlainSource 17 /api/publicationsource/17 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 37347058 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=37347058&dopt=Abstract false true Classification 12434 /api/classification/12434 true true Keyword 2180915 /api/keyword/2180915 true true Keyword 2396118 /api/keyword/2396118 true true Keyword 3129957 /api/keyword/3129957 true true Keyword 3129958 /api/keyword/3129958 true true Keyword 3129959 /api/keyword/3129959 true true SjrRating 11380822 /api/sjrrating/11380822 47 0.49 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2716 /api/classificationexternal/2716 true 2716 true Q2 DIRECT true true /api/publication/34035872 <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="10002781"><a href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Molnar Maria Judit ✉ (<span class="authorship-author-name">Molnár Mária Judit</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Genomic Medicine and the Institute of Rare Diseases">GMIRD</span>/ELKH-SE Multi-Omics Neurodegeneration Research Group</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10072601"><a href="/gui2/?type=authors&mode=browse&sel=10072601" target="_blank">Szlepak Tamas (<span class="authorship-author-name">Szlepák Tamás</span> <span class="authorAux-mtmt"> Molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Genomic Medicine and the Institute of Rare Diseases">GMIRD</span>/ELKH-SE Multi-Omics Neurodegeneration Research Group</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Csürke Ildikó </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10089077"><a href="/gui2/?type=authors&mode=browse&sel=10089077" target="_blank">Loth Szendile (<span class="authorship-author-name">Lóth Szendile</span> <span class="authorAux-mtmt"> gyermekgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10038288"><a href="/gui2/?type=authors&mode=browse&sel=10038288" target="_blank">Káposzta Rita (<span class="authorship-author-name">Káposzta Rita Kinga</span> <span class="authorAux-mtmt"> Gyermekgyógyászat, allergológia és klinikai imm...</span>) </a> </span> <span class="author-affil"><span title="University of Debrecen">UD</span>/<span title="Faculty of Medicine">Faculty of Medicine</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000682"><a href="/gui2/?type=authors&mode=browse&sel=10000682" target="_blank">Erdős Melinda (<span class="authorship-author-name">Erdős Melinda</span> <span class="authorAux-mtmt"> Immunológia, infektológia, gyermekgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Dermatology, Dermatooncology and Venerology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10022697"><a href="/gui2/?type=authors&mode=browse&sel=10022697" target="_blank">Dezsőfi Antal (<span class="authorship-author-name">Dezsőfi-Gottl Antal</span> <span class="authorAux-mtmt"> gyermekgyógyászat, gasztroenterológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;34035872" target="_blank">Case report : The spectrum of SMPD1 pathogenic variants in Hungary.</a></div> <div> <span class="journal-title">FRONTIERS IN GENETICS</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/1664-8021">1664-8021</a>)</span>: <span class="journal-volume">14</span> <span class="page"> Paper 1158108. 6 p. </span> <span class="year">(2023)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3389/fgene.2023.1158108" target="_blank" href="https://doi.org/10.3389/fgene.2023.1158108"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001015146700001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001015146700001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85162208313" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85162208313"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="37347058" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=37347058&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Genetics (clinical)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> <div class="journal-subject">Journal subject: Scopus - Genetics&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> <div class="journal-subject">Journal subject: Scopus - Molecular Medicine&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 1</span> | Independent citation: 1 | Self citation: 0 | Unknown citation: 0 | Number of citations in WoS: 1 | Number of citations in Scopus:&nbsp;1 | WoS/Scopus assigned:&nbsp;1 | Number of citations with DOI:&nbsp;1 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;34035872&sort=publishedYear,desc&sort=title"> Number of cited publications: 2 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 34035872</span> | <span class="status-data status-VALIDATED"> Validated </span> Core Citing | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">PubMed XML</span> </div> <div class="funder"> János Bolyai Research Scholarship of the Hungarian Academy of Sciences(TKP2021-NVA-15), (TKP2021-EGA-25), (OTKA139010) Funder: NRDIO </div> <div class="lastModified">Last Modified: 2023.07.13. 14:32 Márta Molnár-Taga (SE 4-es admin) </div> </div></div>