Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.
- DOI
- 10.1016/j.ymgme.2026.110195
- Published
- 2026 Aug
- Container
- Molecular genetics and metabolism
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.ymgme.2026.110195,
title = {Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.},
author = {Yılmaz-Gümüş E and Kılavuz S and Demir Ş and Aydoğan A and Genç E and Akar HT and Akbeyaz İH and Çakar NE and Er E and Gülbahçe A and Güneş H and Kardaş F and Kılıç M and Teke-Kısa P and Koşukcu C and Önal H and Taş İ and Türkdoğan D and Dursun A and Öztürk-Hişmi B},
year = {2026},
journal = {Molecular genetics and metabolism},
doi = {10.1016/j.ymgme.2026.110195},
url = {https://doi.org/10.1016/j.ymgme.2026.110195}
}RIS
TY - JOUR TI - Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort. AU - Yılmaz-Gümüş E AU - Kılavuz S AU - Demir Ş AU - Aydoğan A AU - Genç E AU - Akar HT AU - Akbeyaz İH AU - Çakar NE AU - Er E AU - Gülbahçe A AU - Güneş H AU - Kardaş F AU - Kılıç M AU - Teke-Kısa P AU - Koşukcu C AU - Önal H AU - Taş İ AU - Türkdoğan D AU - Dursun A AU - Öztürk-Hişmi B PY - 2026 JO - Molecular genetics and metabolism DO - 10.1016/j.ymgme.2026.110195 UR - https://doi.org/10.1016/j.ymgme.2026.110195 ER -
APA
E, Y., S, K., Ş, D., A, A., E, G., HT, A., İH, A., NE, Ç., E, E., A, G., H, G., F, K., M, K., P, T., C, K., H, Ö., İ, T., D, T., A, D., & B, Ö. (2026). Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.. Molecular genetics and metabolism. https://doi.org/10.1016/j.ymgme.2026.110195
Source records
- pubmed · retrieved 2026-09-26T22:45:34.094Z