Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions
• In our study, the difficulties encountered by specialists in the diagnosis and treatment of rare diseases in Türkiye and solution suggestions are presented. This is the first study on this subject in Türkiye.
Authors
- Gonca Keskindemirci (ORCID: https://orcid.org/0000-0003-1797-2802)
- Esra Balci (ORCID: https://orcid.org/0000-0003-0127-7602)
- Ayper Somer (ORCID: https://orcid.org/0000-0002-7827-1113)
- Kemal Nişli (ORCID: https://orcid.org/0000-0001-9085-9852)
- Özlem Durmaz (ORCID: https://orcid.org/0000-0001-6969-9962)
- Ayça Dilruba Aslanger (ORCID: https://orcid.org/0000-0003-1770-1762)
- Nuray Aktay Ayaz (ORCID: https://orcid.org/0000-0003-3594-7387)
- Aslı Durmuş (ORCID: https://orcid.org/0000-0002-9671-6665)
- Mustafa Özçetin (ORCID: https://orcid.org/0000-0003-0697-4271)
- Ali Gedikbaşı (ORCID: https://orcid.org/0000-0002-4727-0310)
- Metin Uysalol (ORCID: https://orcid.org/0000-0002-4955-8182)
- Fatmahan Atalar (ORCID: https://orcid.org/0000-0002-1793-9220)
- Feyza Darendelıler (ORCID: https://orcid.org/0000-0003-4786-0780)
- Bedriye Ak (ORCID: https://orcid.org/0000-0002-4277-6355)
- Ayşegül Ünüvar (ORCID: https://orcid.org/0000-0002-4730-7697)
- Gülden Gökçay
- Mübeccel Demirkol
- Ezgi İnce (ORCID: https://orcid.org/0000-0003-3283-9102)
- Meryem Karaca (ORCID: https://orcid.org/0000-0002-0662-7344)
- Mehmet Balcı (ORCID: https://orcid.org/0000-0003-0597-7788)
- Lale Közer Bilgin
- Şerife Gül Karadağ (ORCID: https://orcid.org/0000-0002-3232-0055)
- Demet Demirkol (ORCID: https://orcid.org/0000-0001-9578-9267)
- Esra Yıldız (ORCID: https://orcid.org/0000-0002-4816-0981)
- Zeynep Yürük Yıldırım (ORCID: https://orcid.org/0000-0003-2891-2231)
Institutions
- Istanbul University (TR)
Publication Details
- Journal
- European Journal of Pediatrics
- Published
- 2025-04-05
- DOI
- https://doi.org/10.1007/s00431-025-06101-z
- Citations
- 5
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 9.09