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.

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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
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article

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions

Gonca Keskindemirci, Esra Balci, Ayper Somer, Kemal Nişli et al.
5 citations
European Journal of Pediatrics
Genomics and Rare Diseases
9.09
article

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions

Gonca Keskindemirci, Esra Balci, Ayper Somer, Kemal Nişli, Özlem Durmaz, Ayça Dilruba Aslanger, Nuray Aktay Ayaz, Aslı Durmuş, Mustafa Özçetin, Ali Gedikbaşı, Metin Uysalol, Fatmahan Atalar, Feyza Darendelıler, Bedriye Ak, Ayşegül Ünüvar, Gülden Gökçay, Mübeccel Demirkol, Ezgi İnce, Meryem Karaca, Mehmet Balcı, Lale Közer Bilgin, Şerife Gül Karadağ, Demet Demirkol, Esra Yıldız, Zeynep Yürük Yıldırım
article en
5 citations

Abstract

• 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.

European Journal of PediatricsVol. 184(5)
Istanbul University (TR)
Industry, innovation and infrastructure
Openalex Percentile: Top 2%
Genomics and Rare Diseases
9.09
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