Pub Date : 2026-03-07DOI: 10.1186/s13023-026-04296-4
İbrahim Yahya Çakır, Abdulsamet Erden, Ertuğrul Çağrı Bölek, M Fatih Mulayim, Rahime Duran, İbrahim Karaduman, Esma Eseroğlu, Burak Karakaya, Büşra Köksoy, Ali Babazade, Gulsum Kayhan, Hamit Küçük, Mehmet Ali Ergun, Abdurrahman Tufan, Mehmet Akif Öztürk
{"title":"Is a variant of uncertain significance always 'insignificant'? A systematic review on PRF1 A91V in Hemophagocytic Lymphohistocytosis and comparative analysis with Still's disease.","authors":"İbrahim Yahya Çakır, Abdulsamet Erden, Ertuğrul Çağrı Bölek, M Fatih Mulayim, Rahime Duran, İbrahim Karaduman, Esma Eseroğlu, Burak Karakaya, Büşra Köksoy, Ali Babazade, Gulsum Kayhan, Hamit Küçük, Mehmet Ali Ergun, Abdurrahman Tufan, Mehmet Akif Öztürk","doi":"10.1186/s13023-026-04296-4","DOIUrl":"https://doi.org/10.1186/s13023-026-04296-4","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147373254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-07DOI: 10.1186/s13023-026-04295-5
Anteneh Amsalu, Hanif Haidari, Bianca Mirco, Victoria Rudolph-Stringer, Sophie Walter, Anna Antipov, Dédée F Murrell, Zlatko Kopecki
{"title":"Characterisation of the wound microbiome and antimicrobial resistance profiles in clinical isolates from epidermolysis bullosa patients.","authors":"Anteneh Amsalu, Hanif Haidari, Bianca Mirco, Victoria Rudolph-Stringer, Sophie Walter, Anna Antipov, Dédée F Murrell, Zlatko Kopecki","doi":"10.1186/s13023-026-04295-5","DOIUrl":"https://doi.org/10.1186/s13023-026-04295-5","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147373076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-07DOI: 10.1186/s13023-026-04293-7
Willemijn Irvine, Linde Margriet van der Kamp, Olivia Spivack, René Wijnen, Alberto Sgrò, Julia Brendel, Katrin Zahn, Lucas Matthyssens, Elisabet Gustafsson, Henrik Røkkum, Lucia Migliazza, Rony Sfeir, Annika Mutanen, Udo Rolle, Anne Dariel, Marc Miserez, Ausra Lukosiute-Urboniene, Alexandre Vivanti, Nina Peters, Peter Conner, Eglė Machtejevienė, Francesca Russo, Ana Sanchez Torres, Alena Kokešová, Hans Jorgen Stensvold, Florian Kipfmueller, Mohamed Riadh Boukhris, Costanza Tognon, Simon Eaton, Iris den Uijl, Alexandra Benachi, Carmen Mesas Burgos
{"title":"ERNICA evidence based guideline on omphalocele.","authors":"Willemijn Irvine, Linde Margriet van der Kamp, Olivia Spivack, René Wijnen, Alberto Sgrò, Julia Brendel, Katrin Zahn, Lucas Matthyssens, Elisabet Gustafsson, Henrik Røkkum, Lucia Migliazza, Rony Sfeir, Annika Mutanen, Udo Rolle, Anne Dariel, Marc Miserez, Ausra Lukosiute-Urboniene, Alexandre Vivanti, Nina Peters, Peter Conner, Eglė Machtejevienė, Francesca Russo, Ana Sanchez Torres, Alena Kokešová, Hans Jorgen Stensvold, Florian Kipfmueller, Mohamed Riadh Boukhris, Costanza Tognon, Simon Eaton, Iris den Uijl, Alexandra Benachi, Carmen Mesas Burgos","doi":"10.1186/s13023-026-04293-7","DOIUrl":"https://doi.org/10.1186/s13023-026-04293-7","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147373249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-06DOI: 10.1186/s13023-026-04266-w
Maryam Ziadlou, Anita MacDonald
{"title":"Assessing the nutritional value and health risks of special low‑protein foods: narrative review.","authors":"Maryam Ziadlou, Anita MacDonald","doi":"10.1186/s13023-026-04266-w","DOIUrl":"10.1186/s13023-026-04266-w","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12965038/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147369945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-05DOI: 10.1186/s13023-026-04269-7
Evert Manders, Sarai Keestra, Wilbert Bannenberg, Vincent van der Wel, Saco de Visser, Carla Hollak
{"title":"A cost-based-plus pricing approach for repurposed tiratricol in the treatment of Allan-Herndon-Dudley syndrome.","authors":"Evert Manders, Sarai Keestra, Wilbert Bannenberg, Vincent van der Wel, Saco de Visser, Carla Hollak","doi":"10.1186/s13023-026-04269-7","DOIUrl":"https://doi.org/10.1186/s13023-026-04269-7","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147366127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-05DOI: 10.1186/s13023-026-04252-2
Hye Mi Kwon, Hyun Su Kim, Sang Ah Chi, Soo Hyun Nam, Hye Jin Kim, Sang Beom Kim, Byung-Ok Choi
{"title":"An open-label single-arm phase 1/2a study to evaluate the safety and exploratory efficacy of a VM202 in patients with Charcot-Marie-Tooth disease 1A.","authors":"Hye Mi Kwon, Hyun Su Kim, Sang Ah Chi, Soo Hyun Nam, Hye Jin Kim, Sang Beom Kim, Byung-Ok Choi","doi":"10.1186/s13023-026-04252-2","DOIUrl":"https://doi.org/10.1186/s13023-026-04252-2","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147366169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-05DOI: 10.1186/s13023-026-04247-z
Amanda K Swanson, Kimberly J Hammersmith, Jin Peng, Kaitrin K Kramer, Andrew Wapner, Beau D Meyer
{"title":"Assessing healthcare experiences and barriers to care among individuals with ectodermal dysplasia.","authors":"Amanda K Swanson, Kimberly J Hammersmith, Jin Peng, Kaitrin K Kramer, Andrew Wapner, Beau D Meyer","doi":"10.1186/s13023-026-04247-z","DOIUrl":"https://doi.org/10.1186/s13023-026-04247-z","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147366102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-03DOI: 10.1186/s13023-026-04289-3
Maria Grazia Alessandrì, Chiara Bosetti, Elena Scaffei, Claudia Casalini, Simona Balestrini, Luciana Tramacere, Pierfrancesco Ambrosi, Michela Tosetti, Renzo Guerrini, Roberta Battini
{"title":"Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.","authors":"Maria Grazia Alessandrì, Chiara Bosetti, Elena Scaffei, Claudia Casalini, Simona Balestrini, Luciana Tramacere, Pierfrancesco Ambrosi, Michela Tosetti, Renzo Guerrini, Roberta Battini","doi":"10.1186/s13023-026-04289-3","DOIUrl":"https://doi.org/10.1186/s13023-026-04289-3","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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