相关数据集
Tumor-induced Osteomalacia: A Systematic Review and Individual Patientâs Data Analysis
Abstract Context Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome, usually caused by small, benign, and slow-growing phosphaturic mesenchymal tumors. Clinically, TIO is characterized
DataONE2022-06-17 更新100
Supplementary Material for: Developing a core outcome set for Netherton syndrome: An international multi-stakeholder e-Delphi consensus study
Introduction: Netherton syndrome (NS; OMIM#256500) is a rare and severe disorder of epidermal maturation and keratinization caused by pathogenic variants in the serine protease inhibitor Kazal type 5
Figshare2024-11-01 更新30
Activity diary.
X-linked hypophosphataemia is a rare, genetic, lifelong disorder caused by phosphate-regulating endopeptidase homologue X-linked pathogenic variants and, if left untreated, is associated with a progre
Figshare2026-03-20 更新20
Additional file 8 of Patient pathways for rare diseases in Europe: ataxia as an example
Additional file 8. Dataset of patients survey for three countries.
Figshare2024-08-14 更新40
Additional file 1 of Composite endpoints, including patient reported outcomes, in rare diseases
Supplementary Material 1
DataCite Commons2023-11-21 更新30
