Orphanet Journal of Rare Diseases最新文献

{"title":"Clinical outcomes of liver transplantation in Caroli syndrome: a retrospective analysis.","authors":"Fei Hou, Hao-Feng Xiong, Ying Liu, Shuang Zhao, Yi-Zhi Zhang, Qian Kang, Jing-Yi Liu, Lin Wei, Wei Qu, Zhi-Gui Zeng, Zhi-Jun Zhu, Li-Ying Sun","doi":"10.1186/s13023-025-03943-6","DOIUrl":"10.1186/s13023-025-03943-6","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"497"},"PeriodicalIF":3.5,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12492817/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145213435","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}

{"title":"French guidelines for the management of nonadvanced mastocytosis in adults.","authors":"Cristina Bulai Livideanu, Stéphane Barete, Ghandi Damaj, Michel Arock, Julien Rossignol, Olivier Hermine","doi":"10.1186/s13023-025-03764-7","DOIUrl":"10.1186/s13023-025-03764-7","url":null,"abstract":"<p><p>Mastocytosis is a rare disease caused by abnormal mast cell accumulation/proliferation in various organs/tissues. Its clinical features exhibit significant variability irrespective of its clinical presentation, classification, global survival or impact on quality of life (QOL). For example, 15% of adult patients present isolated skin mastocytosis, called cutaneous mastocytosis (CM), while 85% have systemic mastocytosis (SM), with the most frequent type of skin lesions being systemic mastocytosis with cutaneous infiltration. In addition, regardless of the location of the mast cells or whether the CM or SM is isolated (whether with or without associated skin involvement), symptoms due to mast cell activation can vary in severity and may be life-threatening. All these manifestations can impose additional stress on patients.This protocol is a compendium of evidence-based recommendations formulated by experts. Its purpose is to assist clinicians in the management of these rare and frequently complex diseases. It describes the management of adult patients with nonadvanced or indolent mastocytosis (CM), CM with primary MCAS, indolent systemic mastocytosis, bone marrow mastocytosis, and smoldering mastocytosis.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"499"},"PeriodicalIF":3.5,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12492810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145213445","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}

{"title":"Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases.","authors":"Laura L Tosi, Tracy S Hart, Gabriela Beug, Erika Carter, Eleanor M Perfetto","doi":"10.1186/s13023-025-03973-0","DOIUrl":"10.1186/s13023-025-03973-0","url":null,"abstract":"<p><p>Adults with childhood-onset rare disease face many challenges when transitioning from pediatric services to adult care. While they often received specialized pediatric care, the adult healthcare system provides few resources for those whose rare disease began in childhood. Many adult care providers are hesitant to take on adults with rare disease and may shunt them elsewhere. Treatment recommendations are evolving rapidly, making it difficult for any clinician to stay up to date, and patients with rare disease often have special needs that must be addressed by multiple specialists at once. These young adults are often faced with \"nowhere to go\" for care.A pressing question is: What can be done now to help adult patients with rare diseases gain access to the care they need. In response, a patient-community-driven, solution-oriented conference was held, entitled, \"Somewhere to Go for Adults with Childhood-Onset Rare Diseases: A Conversation About How We Can Fill Gaps in Care.\" The purpose was to bring the rare-disease community together to explore action steps that could be taken in the next two to three years to address the growing, national care crisis for adults with rare diseases transitioning from pediatric to adult care. This position paper provides an overview of the key topics discussed and summarizes the 21 prioritized, actionable recommendations produced.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"498"},"PeriodicalIF":3.5,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12492944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145213376","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}

{"title":"Machine learning-augmented biomarkers in mid-pregnancy Down syndrome screening improve prediction of small-for-gestational-age infants.","authors":"Bin Zhang, Xusheng Chen, Zhaolong Zhan, Sijie Xi, Yinglu Zhang, He Dong, Xiaosong Yuan","doi":"10.1186/s13023-025-04027-1","DOIUrl":"10.1186/s13023-025-04027-1","url":null,"abstract":"<p><strong>Background: </strong>Adverse fetal growth outcomes (AFGO), primarily characterized by small-for-gestational age (SGA), large-for-gestational age (LGA), low birth weight (LBW) neonates, and macrosomia (Mac), present substantial challenges in early prediction. This study aims to 1) establish a predictive probability for AFGO using routine biochemical markers from prenatal Down syndrome screening, and 2) evaluate the performance of machine learning-based prediction models that incorporate these biomarkers and maternal characteristics for AFGO identification.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 2533 singleton deliveries from 2015 to 2017, with available data on early second-trimester biomarkers [α-fetoprotein (AFP), free β-human chorionic gonadotropin (fβ-hCG), and unconjugated estriol (uE3)], as well as pregnancy outcomes.</p><p><strong>Results: </strong>Serum uE3 demonstrated higher predictive performance for AFGO compared to fβ-hCG or AFP alone, with higher area under the curve (AUC) values in receiver operating characteristic (ROC) analyses (SGA: 0.626 vs. 0.501/0.500; LGA: 0.557 vs. 0.502/0.537; LBW: 0.614 vs. 0.543/0.559; Mac: 0.546 vs. 0.532/0.519). To improve AFGO prediction, we developed four machine learning-based models. Gradient boosting machine (GBM) and generalized linear model (GLM) models demonstrated optimal performance for SGA prediction, achieving AUC values of 0.873 and 0.706, respectively, in the training set (n = 1782, SGA 143), and 0.717 and 0.739 in the test set (n = 751, SGA 68).</p><p><strong>Conclusion: </strong>Serum uE3 is superior to fβ-hCG and AFP in predicting AFGO. GBM and GLM models significantly enhance SGA prediction performance, highlighting the potential of integrating routine prenatal screening biomarkers with machine learning for early identification of AFGO.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"496"},"PeriodicalIF":3.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12487514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145207227","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}

{"title":"Involvement of patient organisations in research activities: actions taken and lessons learned in a clinical research study for osteogenesis imperfecta.","authors":"Marina Mordenti, Leonardo Panzeri, Alice Moroni, Manila Boarini, Marta Calzolari, Francesca Gurioli, Chiara Pollicini, Giulia Rogati, Alberto Leardini, Luca Sangiorgi","doi":"10.1186/s13023-025-03986-9","DOIUrl":"10.1186/s13023-025-03986-9","url":null,"abstract":"<p><strong>Background: </strong>Rare diseases are chronic, progressive, and debilitating conditions, affecting 3.5-5.9% of the global population. Clinical research studies are crucial for developing new diagnostic approaches and treatments and for overcoming the lack of awareness and the need of expertise surrounding these diseases. Involving patient organizations in clinical studies is widely considered a promising approach, to overcome barriers and to facilitate research activities. The aim of this paper is to present the actions taken, the relevant results, and the lessons learned from involving a patient organization in shaping, conducting, and disseminating a clinical study on rare patients with Osteogenesis Imperfecta.</p><p><strong>Results: </strong>In a context of a clinical study in which patients underwent a comprehensive, fully instrumental gait analysis and an evaluation of specific movement tasks using stereophotogrammetry and wearable sensors, we assessed all the actions taken and the results achieved by the implementation of an original collaborative model between a public institution and a national patient organization. To generalize our collaborative experience, steps and stages of the research process that can benefit the most from the support of a patient organization were identified, experimental protocol drafting, ethic committee approval, patient enrolment, and dissemination. Patients reported positive feedback in a short questionnaire on the use case experience. Moreover, we highlighted the gains and the weaknesses of this approach.</p><p><strong>Conclusions: </strong>This experience resulted in several benefits for all the actors involved, strengthening the collaboration between the PO and researchers and fostering a cohesive and cooperative network.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"495"},"PeriodicalIF":3.5,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200543","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}

{"title":"Validation of the sunlight exposure diary and the erythropoietic protoporphyria impact questionnaire (EPIQ).","authors":"Hetanshi Naik, Susan D Mathias, Michelle P Turner, Megan O'Grady, Chelsea Norregaard, Hilary H Colwell, William Savage, Melanie Chin","doi":"10.1186/s13023-025-04012-8","DOIUrl":"10.1186/s13023-025-04012-8","url":null,"abstract":"<p><strong>Background: </strong>Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders that can negatively affect one's health-related quality of life (HRQoL) because of pain from phototoxic reactions and the avoidance of sun exposure that is recommended. There is a need for reliable and valid patient-reported outcome measures (PROMs) that address all aspects of EPP/XLP, including symptoms and impacts. Our objective was to assess 2 recently developed PROMs, the Sunlight Exposure Diary and the EPP Impact Questionnaire (EPIQ), to determine their factor structure and explore their psychometric properties.</p><p><strong>Results: </strong>During a clinical trial conducted from January 2023 to August 2024 evaluating an oral therapy to improve sunlight tolerance in adults, participants with EPP or XLP completed the Sunlight Exposure Diary, the EPIQ, and other PROMs (PROMIS-57 v2.1, PROMIS Short Form v2.0 - Social Isolation, and PROMIS-Neuropathic Pain Quality v2.0 scales), at multiple time points via electronic data capture. Data from all treatment groups were combined for analysis. 65 participants with a baseline and at least 1 follow-up assessment on the EPIQ were included (mean age = 45, 51% male, whole-blood metal-free PPIX levels = 9335.5 µg/L). Exploratory Factor Analysis identified 1 underlying factor in the Sunlight Exposure Diary (\"Tingling/Itching\") and 3 in the EPIQ (\"Duration of Full Reaction,\" \"Overall Change,\" and \"Overall Severity and Impact\"). The factor from the Sunlight Exposure Diary showed less consistent performance. A single item from the Sunlight Exposure Diary was also evaluated (the Daily Daylight Tolerance Over 2-Week Interval). The 3 factors from the EPIQ demonstrated acceptable to strong psychometric properties in terms of reliability (internal consistency, test-retest), validity (construct, known groups), and responsiveness. Ranges for meaningful change, using anchor- and distribution-based approaches, were established.</p><p><strong>Conclusions: </strong>These PROMS address the need for EPP/XLP-specific measures that assess the duration, severity, and impact of early warning symptoms and full phototoxic reactions, and capture impacts of EPP and XLP on well-being and HRQoL. Results suggest that the PROMs are reliable and valid, supporting their use in future research and relevant for assessing the experiences of individuals with EPP or XLP.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"492"},"PeriodicalIF":3.5,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200552","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}

{"title":"Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency-results from an international survey study.","authors":"Adel Sabet Morsy, Solomon Mbua, Toni Mathieson, Justin Hopkin, Shaun Bolton","doi":"10.1186/s13023-025-03997-6","DOIUrl":"10.1186/s13023-025-03997-6","url":null,"abstract":"<p><strong>Background: </strong>Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder caused by SMPD1 mutations, resulting in sphingomyelin accumulation and diverse manifestations. Olipudase alfa, an enzyme replacement therapy, has shown efficacy in treating non-neurological symptoms of ASMD, while its impact on patient-reported outcomes remains underexplored. Therefore, there is a need to investigate the disease burden, patient perspectives, treatment expectations, risk tolerance, and unmet needs of adult ASMD patients receiving olipudase alfa.</p><p><strong>Methods: </strong>A retrospective case series design was employed, incorporating online surveys and semi-structured interviews. Surveys explored demographics, symptoms, and treatment experiences, drawing on input from stakeholders, including researchers, clinicians, and patient advocacy groups. Participants aged 18 or older with a confirmed ASMD diagnosis and receiving olipudase alfa were recruited through patient organisations. Surveys were administered online via Qualtrics, and interviews were conducted and transcribed for qualitative analysis.</p><p><strong>Results: </strong>ASMD posed substantial burden on participants' ability to perform daily activities. Olipudase alfa was associated with substantial improvement in non-neurological manifestations of ASMD. Participants perceived the drug's risks to be low, and the benefits outweigh the risks or burden. Most participants express satisfaction with olipudase alfa and their ability to lead better lives due to fewer ASMD symptoms since starting treatment.</p><p><strong>Conclusions: </strong>This study highlights the burden of ASMD and the positive impact of olipudase alfa on patients' quality of life. Findings reinforce the importance of early diagnosis and accessible treatment. Despite the favourable outcomes, there remains a need for therapies targeting neurological manifestations and reducing treatment burden. Future research should focus on long-term outcomes and continue to prioritise patient-reported experiences to guide therapeutic development.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"493"},"PeriodicalIF":3.5,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12487063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200485","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}

{"title":"Exit interviews with caregivers of pediatric patients with classic galactosemia to explore meaningfulness of changes in the ACTION-galactosemia kids trial.","authors":"Jason A Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge","doi":"10.1186/s13023-025-04024-4","DOIUrl":"10.1186/s13023-025-04024-4","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant and toxic metabolite, galactitol. Living with the debilitating symptoms and long-term consequences of Classic Galactosemia creates a heavy burden on patients' and their families' lives. Objectives were to: (1) Evaluate the impact and burden of disease; (2) Qualitatively explore changes in patient symptoms following treatment; and (3) Document the meaningfulness of changes resulting from treatment with govorestat as assessed by the Caregiver Global Impression of Severity (CGIS) and Caregiver Global Impression of Change (CGIC) scales.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methodology: &lt;/strong&gt;The AT-007-1002 clinical trial involved a Phase 1/2 dose escalation component (Part A) followed by a Phase 3, randomized, double-blind, placebo-controlled long-term administration component (Part B) that evaluated potential clinical benefit. Exit Interviews were completed prior to unblinding of data. The in-depth, qualitative interviews were semi-structured, using a discussion guide, and conducted by either Zoom or GoToMeeting. Thirty-six caregiver interviews were conducted, capturing the experience of 37 pediatric patients (one caregiver had 2 patients enrolled in the study). Thematic analysis was undertaken to identify themes or patterns within the data. All analyses were conducted on blinded data. Following finalization of the analysis and report findings, post-hoc analysis of the unblinded data was then conducted to explore the meaningfulness of patients experience by treatment arm.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;This study confirms the substantial burden known to be associated with Classic Galactosemia in a pediatric population. The difficulties experienced were across multiple areas including cognitive function, behavior/social function, motor function, emotional function, communication, vision problems, ovarian insufficiency, sensory difficulties, and sleep problems. The interviews demonstrated that most patients (approximately two thirds) experienced an improvement in symptoms and impacts associated with classic galactosemia over the course of the trial. Nearly all caregivers reported that they perceived a 1-category change on the Caregiver Global Impression of Severity or Caregiver Global Impression of Change items, indicating severity and change respectively, was meaningful to them and the patient. Unblinded analysis of the exit interview data confirmed the patient experience reported by caregivers was different between the treatment arms, providing qualitative support for the treatment benefit of govorestat when compared to placebo. Furthermore, the qualitative data from caregivers provide in-depth insights of their unique lived experience that highlight the substantial impact that this improvement had on the care","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"494"},"PeriodicalIF":3.5,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12487238/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200488","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}

{"title":"Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.","authors":"Zhenzhu Zheng, Weilin Peng, Yiming Lin, Weihua Lin, Gaoxiong Wang","doi":"10.1186/s13023-025-03723-2","DOIUrl":"10.1186/s13023-025-03723-2","url":null,"abstract":"<p><strong>Background: </strong>Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive organic acidaemia. This paper aimed to describe the clinical, biochemical and molecular features of four Chinese patients with HLCS deficiency, and to research the novel mutation.</p><p><strong>Methods: </strong>Tandem mass spectrometric analysis of elevated 3-hydroxyisovaleryl carnitine (C5OH) on dried blood spots was performed. Next-generation sequencing was then used to make a definite diagnosis, and the related variants were checked in several databases.</p><p><strong>Results: </strong>The four patients exhibited varying degrees of clinical symptoms, abnormal biochemical analysis and acylcarnitine profile. A total of six mutations in the HLCS gene were identified, including one novel missense mutation [c.1505 A > G (p.Gln502Arg)], and one frameshift mutation [c.2159delT (p.Leu720Profs*31)]. The variation c.1505 A > G (p.Gln502Arg) is predicted to be possibly damaging by several in silico prediction programs. Another frameshift variation, c.2159delT (p.Leu720Profs*31), is classified as uncertain significance.</p><p><strong>Conclusions: </strong>A novel variation c.1505 A > G (p.Gln502Arg) expands the mutational spectrum of the HLCS gene. Patient 4 is the first patient diagnosed as HLCS deficiency carrying the c.2159delT (p.Leu720Profs*31) variation. The results may contribute to a better understanding of the clinical course and genetic characteristics of patients with HLCS deficiency.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"491"},"PeriodicalIF":3.5,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200540","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}

{"title":"Correction: Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene.","authors":"Ping Wang, Hanbing Xie, Xiao Xiao, He Wang, Yan Wang, Shanling Liu","doi":"10.1186/s13023-025-04032-4","DOIUrl":"10.1186/s13023-025-04032-4","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"490"},"PeriodicalIF":3.5,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150260","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}