Orphanet Journal of Rare Diseases最新文献

{"title":"Debates over orphan drug pricing: a meta-narrative literature review.","authors":"Matthew S Hanchard","doi":"10.1186/s13023-025-03634-2","DOIUrl":"10.1186/s13023-025-03634-2","url":null,"abstract":"<p><p>Rare disease prevalence rates are increasing rapidly worldwide, as are the cost of orphan indication drugs used to treat them, posing significant strain on many healthcare systems. In response, a set of tensions have arisen within academic, activist, advocacy, industry, and policy circles over orphan drug pricing. Yet there has to date been no unifying review of the literature engaging critically with these tensions. Addressing this gap, the article examines the narratives in circulation around orphan pricing, the traditions and epistemic bases they draw on, and their points of contestation/coalescence. It does so through a meta-narrative literature review, finding three core narratives. One involves dispute over outlay costs for developing new orphan drugs, often drawing on normative health economics with a base in practical idealism. It argues that (bio)pharmaceutical manufacturers misuse policy incentives to profit excessively through monopoly capitalism. A second narrative draws on both empirical and normative health economics (often steeped in empiricism paired with a utilitarian standpoint). It contends that high orphan drug prices signify a healthy market and justifiably support longer-term innovation while promoting wider equity of access. A third (midway) narrative draws on the sociology of health and innovation studies alongside normative health economics and health policy studies to suggest alternative models of innovation and valuation. As a unifying meta-narrative, the review finds a sustained call for reform, centred on welfare economics and resource allocation, where current incentives and regulations are held to be insufficient. Overall, the article recommends that regulators look to alternative models of innovation steeped in social science thinking to modify reviewing appraisal, coverage, and reimbursement processes for orphan drugs. Also, that greater patient inclusion and transparency would help include a wider range of intangible social factors that rare disease patients face in accessing high priced orphan drugs.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"107"},"PeriodicalIF":3.4,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586512","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":"\"My dream is to not have to be on a diet\": a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective.","authors":"Robin Pokrzywinski, Danaé Bartke, Claudine Clucas, Kathy Machuzak, Lionel Pinto","doi":"10.1186/s13023-025-03576-9","DOIUrl":"10.1186/s13023-025-03576-9","url":null,"abstract":"<p><strong>Background: </strong>Patients with classical homocystinuria (HCU) are unable to metabolize homocysteine and rely on dietary treatment to reduce their risk of complications (e.g., thromboembolism, cognitive impairment). Little is known about how patients are affected by their HCU disease experience.</p><p><strong>Methods: </strong>One-on-one, semi-structured interviews were conducted in adult and pediatric patients (aged ≥ 12 years) with HCU and in primary caregivers on behalf of pediatric patients aged 5-17 years. Interviews elicited patients' experiences with signs, symptoms, and impacts of HCU. Participants listed their most-bothersome signs/symptoms and impacts and were asked about what changes in HCU treatment would improve their everyday lives.</p><p><strong>Results: </strong>Eleven adult patients, two pediatric patients, and seven caregivers (of non-participating patients) participated. Many were most bothered by cognition-related symptoms (n = 7, 35%) and fatigue (n = 6, 30%). Nearly all participants (n = 19, 95%) struggled with the \"very restricted [low-protein] diet\" and the \"disgusting\" and inconvenient medical formula. The dietary restrictions and requirements often led to challenges fitting in socially. Psychological impacts of HCU (e.g., anxiety, depression) were highly prevalent (n = 16, 80%) and bothersome (n = 9, 45%). Many patients experienced financial burdens related to their dietary treatment (n = 14, 70%). Most participants wanted a treatment involving less formula or a more relaxed diet (n = 12, 60%) and felt that these changes would meaningfully improve their everyday lives.</p><p><strong>Conclusions: </strong>Most patients were burdened by adhering to dietary treatment and by symptoms that worsened when they did not adhere to treatment. These findings can be used to inform treatment goals and care to improve patients' everyday lives.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"106"},"PeriodicalIF":3.4,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11884047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567833","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":"The multifaceted challenges faced by women in the field of inherited metabolic disorders.","authors":"Livia Lenzini, Sara Bianconi, Giorgia Gugelmo, Vincenza Gragnaniello, Simone Messerotti Benvenuti, Gian Paolo Fadini, Nicola Vitturi","doi":"10.1186/s13023-025-03604-8","DOIUrl":"10.1186/s13023-025-03604-8","url":null,"abstract":"<p><p>Inherited metabolic disorders (IMDs) are heritable conditions that affect up to 125:100,000 people worldwide. In addition to severe disabling forms that require continuous and costly assistance in both pediatric and adult patients, some IMDs can have mild forms, with the first clinical signs starting in adolescence or very late in adulthood. In the complex field of IMDs, featuring multifaceted challenges that span from scientific discoveries to patient care, women play a central role in contributing to clinical practice, research, patient advocacy, care, and education. In this narrative review, we focused on the involvement of women in the field of IMDs, highlighting not only their extensive contributions but also the undervaluation of the psychological and emotional tolls paid by women dealing with these diseases. Moreover, from a female-centered perspective, we explored the condition of an adult patient with an IMD to highlight the importance of changing the current approach to the clinical management of these diseases toward a more gender-focused approach.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"104"},"PeriodicalIF":3.4,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567834","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":"The use and experience of the national disability insurance scheme for Australians with skeletal dysplasia: a mixed-methods study.","authors":"Jun Hei Jeremy Lai, Penelope Ireland, Daphne Nguyen, Ashley Woodbury, Verity Pacey","doi":"10.1186/s13023-025-03630-6","DOIUrl":"10.1186/s13023-025-03630-6","url":null,"abstract":"<p><strong>Background: </strong>Skeletal dysplasias are rare disorders affecting bone growth and development that impact functional performance. In Australia, the National Disability Insurance Scheme (NDIS) was rolled out in 2016 to support individuals with disabilities access reasonable and necessary supports to promote independence and quality of life. Anecdotally, Australians with skeletal dysplasias report challenges with accessing and using the NDIS but this has not previously been reported in the literature. Therefore, this study aims to explore the use and experience of NDIS for Australians with skeletal dysplasias.</p><p><strong>Methods: </strong>This is a cross-sectional, mixed-methods study. Eligible participants included adults and children (represented by their parents) with skeletal dysplasias, irrespective of NDIS access. Participants completed an online survey, the Functional Independence Measure (FIM), or WeeFIM for paediatric participants, and semi-structured interviews exploring their NDIS access, use, and experience. Survey responses and FIM/WeeFIM results were analysed using descriptive statistics. Grounded theory approach and inductive thematic analysis was performed on qualitative data.</p><p><strong>Results: </strong>Of the 14 participants (10 adults, 4 parents), nine (64%) had NDIS access. Six (66.7%) participants with access reported to be satisfied with their NDIS experience, two (22.2%) extremely satisfied, and one (11.1%) neutral. FIM (median 115.5/126, range 104-125) and WeeFIM (median 95.5/126, range 61-124) demonstrated all participants utilised assistance and/or equipment in daily activities. Three key themes identified through interviews: (1) Consistent, process-driven barriers, (2) Inconsistent, person-driven facilitators, and (3) Impact of NDIS.</p><p><strong>Conclusion: </strong>Despite all participants demonstrating a need for assistance to achieve functional independence, experience and success in accessing the NDIS were varied. Both positive and negative impacts were reported when accessing, or attempting to access the NDIS. To promote more equal and equitable NDIS access for individuals with skeletal dysplasias, NDIS and condition-specific knowledge is recommended for all stakeholders. Finally, further evaluation is needed to ensure future NDIS eligibility changes provide access to those who are potentially eligible but currently rejected.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"105"},"PeriodicalIF":3.4,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567835","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":"Global research dynamics in urea cycle disorders: a bibliometric study highlighting key players and future directions.","authors":"Yan Wang, Xueer Wang, Huiqin Zhang, Binhui Zhu","doi":"10.1186/s13023-025-03625-3","DOIUrl":"10.1186/s13023-025-03625-3","url":null,"abstract":"<p><strong>Background: </strong>This study aims to explore the research hotspots and trends of urea cycle disorders through bibliometric analysis.</p><p><strong>Methods: </strong>Using the Web of Science Core Collection as the database, we retrieved literature published from 2007 to 2024. We utilized CiteSpace, VOSviewer, and Bibliometrix R package to conduct a bibliometric visualization analysis, including the number of publications, citation frequency, publishing countries, institutions, journals, authors, references, and keywords.</p><p><strong>Results: </strong>A total of 926 publications on UCDs were published in 318 journals by 4807 authors at 1494 institutions from 49 countries/regions. The USA had the highest number of publications and citation frequency. The Children's National Health System in the USA published the most literature. The most frequent collaboration was between the USA and Germany. The journal with the most publications was Molecular Genetics and Metabolism. The author with the most publications was Johannes Häberle. The most frequently cited reference was the 2019 publication of the revised guidelines for the diagnosis and management of UCDs. The identified future research hotspots are expected to focus on \"gene therapy\", \"mutations\" and \"efficacy\".</p><p><strong>Conclusion: </strong>This study is the first bibliometric analysis of publications in the field of UCDs. These findings suggest that European and American countries dominate UCD research, it is necessary to further strengthen global cooperation in the field of UCDs. Early detection of the disease and emerging therapies, including gene therapy, are likely to be future research hotspots.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"101"},"PeriodicalIF":3.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557462","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":"Developmental odontogenic cysts with special focus on the occurrence of multiple cysts and syndromic association: a single-centre cross-sectional study from the Czech Republic.","authors":"David Szaraz, Albert J Ksinan, Ctirad Machacek, Petra Borilova Linhartova","doi":"10.1186/s13023-025-03623-5","DOIUrl":"10.1186/s13023-025-03623-5","url":null,"abstract":"<p><strong>Background: </strong>This retrospective study aims to evaluate the relative representation of individual types of developmental odontogenic cysts (DOCs), especially from the perspective of syndromic and non-syndromic multiple DOCs in the Czech population. In addition, we also summarize the previous studies on the occurrence of multiple DOCs and provide a literature review of case reports and case series on non-syndromic multiple DOCs, particularly dentigerous cysts (DCs) and odontogenic keratocysts (OKCs).</p><p><strong>Methods: </strong>The study included histologically confirmed DOCs retrieved between January 1, 2012, and August 8, 2023, at the Clinic of Maxillofacial Surgery, University Hospital Brno, Czech Republic. All specimens were re-classified according to the fifth edition of the World Health Organization Classification of Head and Neck Tumors, 2022. Patients with an uncertain histological diagnosis were excluded from the study.</p><p><strong>Results: </strong>Of a total of 377 patients, 286 had DCs, 85 OKCs, 5 orthokeratinizing odontogenic cysts (OOCs), 1 botryoid cyst, and 1 calcifying odontogenic cyst. The proportion of patients with multiple DCs in our study (6.6%) was higher than usually reported in the literature. The study also found that 100% of patients with multiple DCs did not exhibit any syndromic associations. On the other hand, 66% of multiple OKCs were associated with the Naevoid Basal Cell Carcinoma Syndrome (NBCCS) and the proportion of OKC patients with NBCCS (7%) was relatively higher than in other studies. Recurrence of OKCs was also significantly associated with NBCCS (p < 0.05). Only one patient presented with bilateral OOCs, without any association with a syndrome.</p><p><strong>Conclusion: </strong>Multiple OKCs are more likely to develop in syndromic patients, while none of the multiple DCs were associated with a syndrome. The incidence of multiple OOCs and other DOCs is extremely rare. Still, we conclude that patients with multiple DOCs should be carefully considered for examination by other specialists to rule out possible syndromic involvement.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"103"},"PeriodicalIF":3.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557458","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":"Phenotypic heterogeneity in mortality and prognosis of pulmonary alveolar proteinosis: a large-scale, global pooled analysis of individual-level data.","authors":"Junfeng Huang, Shuojia Xie, Yuewen Gao, Zikai Lin, Zhe Xu, Jinsheng Lin, Linzhi He, Gengjia Chen, Ziwen Zheng, Zhixing Xu, Jingyan Chen, Jiaming Guo, Zhile Wu, Ailing Duan, Weizhan Luo, Xinyu Song, Shiyue Li","doi":"10.1186/s13023-025-03617-3","DOIUrl":"10.1186/s13023-025-03617-3","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary Alveolar Proteinosis (PAP) is a rare interstitial lung disease with diverse clinical manifestations and outcomes. However, there are limited data on the heterogeneity of PAP, as well as its prognosis, cause of death and genetic mechanisms. This study aims to elucidate mortality, prognostic features, and genetic mechanisms in patients with PAP.</p><p><strong>Methods: </strong>The individual patient data of clinical and mortality were obtained by summarizing the published cases series. Patients with PAP were classified using K-means clustering, and logistic regression identified prognostic factors affecting outcomes. Inheritance and related mechanism of PAP were described by summarizing PAP related genes and enrichment analysis.</p><p><strong>Findings: </strong>Our analysis included 3278 patients from 295 reports, with 88.6% diagnosed with idiopathic PAP (IPAP). Twelve major categories of cause were counted from 312 deaths (mortality: 9.5%), the most common of which were respiratory failure (45.8%) and lung infections (18.3%). Three symptom-related clusters were identified, and patients with multiple symptoms appeared to have worse mortality than those with single or no symptoms (p < 0.05). Non-secondary patterns (OR 2.87, p = 0.003), whole lung lavage (OR 0.15, p < 0.001), and effective GM-CSF therapy (OR 0.08, p < 0.001) are prognostic factors associated with decreased mortality. Additionally, 134 significant genes related to PAP development were identified, highlighting the roles of immune response and lipid metabolism.</p><p><strong>Interpretation: </strong>This study comprehensively describes the clinical characteristics cause of death, prognosis and associated factors based on the global PAP population. The significant phenotype heterogeneity highlighting the importance of long-term prognosis and individualized management for patients with PAP.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"102"},"PeriodicalIF":3.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881271/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557506","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":"The prognostic value of ultrasound features and parafibromin expression in parathyroid carcinoma.","authors":"Ruifeng Liu, Liyuan Ma, Yu Xia, Luying Gao, Jiang Ji, Yuang An, Aonan Pan, Nengwen Luo, Yuxin Jiang","doi":"10.1186/s13023-025-03608-4","DOIUrl":"10.1186/s13023-025-03608-4","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate prognostic factors related with parathyroid carcinoma (PC) based upon ultrasound (US) parameters and parafibromin expression.</p><p><strong>Methods: </strong>Between 2000/01 and 2022/07, thirty-four PC patients with detailed preoperative ultrasonography were enrolled in the research. Immunohistochemical staining of parafibromin was performed on pathological samples of these patients. Based on the expression of parafibromin, the cases were divided into a positive control group (parafibromin expression ≥ 10%) and a negative experimental group (parafibromin expression < 10%). The ultrasound and clinical features of the two groups were analyzed, and Cox regression was used to identify the independent prognostic factors regarding disease-free survival (DFS) and overall survival (OS).</p><p><strong>Results: </strong>Among 34 patients with parathyroid carcinoma, 26 (76.5%) were parafibromin-positive, while 8 (23.5%) were parafibromin-negative. The mean follow-up time was 72.6 (11.0-179.3) months. During the overall survival period, 7 cases (20.6%) died, and 9 cases (26.5%) experienced recurrence or metastasis. The median overall survival time (interquartile range) was 65.7 (35.5-89.7) months, and the median disease-free survival time (interquartile range) was 38.2 (22.2-69.7) months. The risk of recurrence and metastasis in the parafibromin-negative group was 5.9 times higher than that in parafibromin-positive group (95% CI 1.569-22.190). PC patients with calcification on preoperative ultrasonography had a 9.4 times higher risk of death during the overall survival period compared with patients without calcification (95% CI 1.037-85.915). However, parafibromin expression did not show a significant impact on the prognosis of the overall survival.</p><p><strong>Conclusions: </strong>Preoperative US-detected calcification within the lesion is an independent risk factor indicating the shorter OS for PC patients, while loss of parafibromin expression is significant for indicating the recurrence or metastasis of PC patients.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"100"},"PeriodicalIF":3.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557510","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":"Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.","authors":"Meihua Dong, Xu Shi, Yawen Zhou, Jielin Duan, Li He, Xiaonan Song, Zhiwen Huang, Ruchong Chen, Jing Li, Nan Jia","doi":"10.1186/s13023-025-03596-5","DOIUrl":"10.1186/s13023-025-03596-5","url":null,"abstract":"<p><strong>Background: </strong>Primary ciliary dyskinesia (PCD), a rare ciliopathy disorder, is caused by variants in multiple genes, with DNAH5 being one of the most frequently implicated. However, the precise relationship between variant type or location in the DNAH5 gene and the clinical heterogeneity remains elusive. The present systematic review aims to provide critical insights into the impact of the molecular nature of DNAH5 variants on PCD phenotypes.</p><p><strong>Methods: </strong>We enrolled all reported cases of PCD with biallelic pathogenic variants in the DNAH5 gene to date, and evaluated genotype-phenotype correlations in these patients, employing truncating (TV) and missense (MV) variant-carrying as grouping criteria.</p><p><strong>Results: </strong>A total of 323 PCD patients with the DNAH5 variants were included, with 14.55% of these patients were diagnosed as Kartagener syndrome. Pediatric and adult patients exhibited distinct clinical features, including varying incidences of bronchiectasis, infertility, neonatal respiratory distress (NRD), ciliary ultrastructural defects distributions, and lung function (all p < 0.05). With regard to mutational patterns, truncating variants in DNAH5 were clustered in the 1200-3200 amino acid region, and were more prevalent in children compared to adult (p < 0.0001). Most missense variants are clustering in the linker, AAA + ATPase and AAA-lid domains. The most frequently observed mutation, c.10815delT, was prevalent in Europe and America, whereas c.8030G > A was more common in China and Asia. In terms of genotype-phenotype correlations, individuals with the TV/TV genotype exhibited a higher proportion of NRD and earlier onset compared to those with MV-carrying genotypes, both in overall population and in pediatric patients (all p < 0.05). Patients with the TV/TV genotype exhibited worse lung function compared to those with MV-carrying genotypes.</p><p><strong>Conclusion: </strong>The study underscores the broad mutational spectrum and high phenotypic heterogenicity in DNAH5-related PCD patients. The presence of biallelic truncating variants may predispose patients to earlier disease onset and poorer lung function.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"97"},"PeriodicalIF":3.4,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542798","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":"Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine.","authors":"Kexin Xu, Guozhuang Li, Terry Jianguo Zhang, Nan Wu","doi":"10.1186/s13023-025-03615-5","DOIUrl":"10.1186/s13023-025-03615-5","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"98"},"PeriodicalIF":3.4,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11877729/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542802","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}