Diagnostic timing in cerebral creatine deficiency syndromes: neurodevelopmental and genetic characterization of a multicenter cohort

Mehmet Akif Kilic, Volkan Karaman, Pinar Gencpinar, Ayfer Sakarya Gunes, Fatma Mujgan Sonmez, Halil Ibrahim Aydin, Olgay Bildik, Safiye Gunes Sager, Tugce Aksu Uzunhan, Cagatay Gunay, Ozlem Ates Yaman, Hakan Ercelebi, Gunce Basarir, Anil Gok, Melike Ersoy, Deniz Sunnetci Akkoyunlu, Hamza Polat, Ayberk Turkyilmaz, Betul Turan, Bulent Uyanik, Muhtesem Agildere, Hande Kaymakcalan Celebiler, Muhammed Mehtar, Nihal Olgac Dundar, Edibe Pembegul Yildiz, Bulent Kara, Hulya Maras Genc

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DOI: 10.1007/s00431-026-07519-9
Published: 2026-10-15
Container: European Journal of Pediatrics
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1007/s00431-026-07519-9,
  title = {Diagnostic timing in cerebral creatine deficiency syndromes: neurodevelopmental and genetic characterization of a multicenter cohort},
  author = {Mehmet Akif Kilic and Volkan Karaman and Pinar Gencpinar and Ayfer Sakarya Gunes and Fatma Mujgan Sonmez and Halil Ibrahim Aydin and Olgay Bildik and Safiye Gunes Sager and Tugce Aksu Uzunhan and Cagatay Gunay and Ozlem Ates Yaman and Hakan Ercelebi and Gunce Basarir and Anil Gok and Melike Ersoy and Deniz Sunnetci Akkoyunlu and Hamza Polat and Ayberk Turkyilmaz and Betul Turan and Bulent Uyanik and Muhtesem Agildere and Hande Kaymakcalan Celebiler and Muhammed Mehtar and Nihal Olgac Dundar and Edibe Pembegul Yildiz and Bulent Kara and Hulya Maras Genc},
  year = {2026},
  journal = {European Journal of Pediatrics},
  doi = {10.1007/s00431-026-07519-9},
  url = {https://doi.org/10.1007/s00431-026-07519-9}
}

RIS

TY  - JOUR
TI  - Diagnostic timing in cerebral creatine deficiency syndromes: neurodevelopmental and genetic characterization of a multicenter cohort
AU  - Mehmet Akif Kilic
AU  - Volkan Karaman
AU  - Pinar Gencpinar
AU  - Ayfer Sakarya Gunes
AU  - Fatma Mujgan Sonmez
AU  - Halil Ibrahim Aydin
AU  - Olgay Bildik
AU  - Safiye Gunes Sager
AU  - Tugce Aksu Uzunhan
AU  - Cagatay Gunay
AU  - Ozlem Ates Yaman
AU  - Hakan Ercelebi
AU  - Gunce Basarir
AU  - Anil Gok
AU  - Melike Ersoy
AU  - Deniz Sunnetci Akkoyunlu
AU  - Hamza Polat
AU  - Ayberk Turkyilmaz
AU  - Betul Turan
AU  - Bulent Uyanik
AU  - Muhtesem Agildere
AU  - Hande Kaymakcalan Celebiler
AU  - Muhammed Mehtar
AU  - Nihal Olgac Dundar
AU  - Edibe Pembegul Yildiz
AU  - Bulent Kara
AU  - Hulya Maras Genc
PY  - 2026
JO  - European Journal of Pediatrics
DO  - 10.1007/s00431-026-07519-9
UR  - https://doi.org/10.1007/s00431-026-07519-9
ER  -

APA

Kilic, M. A., Karaman, V., Gencpinar, P., Gunes, A. S., Sonmez, F. M., Aydin, H. I., Bildik, O., Sager, S. G., Uzunhan, T. A., Gunay, C., Yaman, O. A., Ercelebi, H., Basarir, G., Gok, A., Ersoy, M., Akkoyunlu, D. S., Polat, H., Turkyilmaz, A., Turan, B., Uyanik, B., Agildere, M., Celebiler, H. K., Mehtar, M., Dundar, N. O., Yildiz, E. P., Kara, B., & Genc, H. M. (2026). Diagnostic timing in cerebral creatine deficiency syndromes: neurodevelopmental and genetic characterization of a multicenter cohort. European Journal of Pediatrics. https://doi.org/10.1007/s00431-026-07519-9

Source records

crossref · retrieved 2026-11-05T14:13:32.059Z