Research map: Improving care for rare and undiagnosed diseases – The role of care pathways

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Papers in this map

  1. What is a clinical pathway? Refinement of an operational definition to identify clinical pathway studies for a Cochrane systematic review · Adegboyega K. Lawal · 2016 · 284 citations · Cited by this paper
  2. Medical education gaps in the diagnosis of Fabry disease in the UK: Descriptive findings from a patient survey and specialists’ interviews · 2025 · Related
  3. The Care Pathway Concept: concepts and theories: an introduction · Guus Schrijvers · 2012 · 274 citations · Cited by this paper
  4. Qualitative needs assessment of financial impact on caregivers of children living with rare diseases · 2026 · Related
  5. Definition and conceptualization of the patient-centered care pathway, a proposed integrative framework for consensus: a Concept analysis and systematic review · Jean‐Baptiste Gartner · 2022 · 135 citations · Cited by this paper
  6. Methodological considerations and implications for appetite and feeding behaviour research in PKU; Current knowledge, practical application and future perspectives · 2025 · Related
  7. Rare disease care pathways in the EU: from odysseys and labyrinths towards highways · Biruté Tumiene · 2021 · 65 citations · Cited by this paper
  8. The BeWayAPDS project: Designing the best way to optimize management of activated PI3Kδ syndrome (APDS) in Spain from the perspective of key stakeholders · 2025 · Related
  9. “Patient Journeys”: improving care by patient involvement · Matt Bolz-Johnson · 2019 · 56 citations · Cited by this paper
  10. Reflections on the ERN ITHACA 2024 Patient Workshop in Bucharest · 2025 · Related
  11. RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks · Rosaria Talarico · 2020 · 29 citations · Cited by this paper
  12. “True Faces of Rare”: Preferences for authentic imagery in disorder-specific materials by people living with rare diseases and their communities · 2025 · Related
  13. Designing rare disease care pathways in the Republic of Ireland: a co-operative model · Alana Ward · 2022 · 27 citations · Cited by this paper
  14. From unsolved to diagnosed: the Undiagnosed Hackathon and functional validation establish RRAS2-related Noonan syndrome · 2026 · Related
  15. An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee · Daniela Choukair · 2021 · 26 citations · Cited by this paper
  16. A qualitative needs assessment of external communication by rare disease associations. · 2025 · Related
  17. Health services interventions to improve the quality of care in rare disease: a scoping review · Cody Chou · 2024 · 5 citations · Cited by this paper
  18. Rare care – Cross-sector care coordination · Gareth S Baynam · 2025 · 5 citations · Cited by this paper
  19. Redefining the approach to rare diseases: the experience of “Casa dos Raros” in Brazil · Roberto Giugliani · 2025 · 5 citations · Cited by this paper
  20. Untitled · Cited by this paper

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