Congenital disorder of deglycosylation 2. Report of a novel MAN2C1 pathogenic variant and additional phenotypic implications.
- DOI
- 10.1016/j.ymgmr.2026.101289
- Published
- 2026 Mar
- Container
- Molecular genetics and metabolism reports
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1016/j.ymgmr.2026.101289,
title = {Congenital disorder of deglycosylation 2. Report of a novel MAN2C1 pathogenic variant and additional phenotypic implications.},
author = {Aguirre-Guillen RL and Arredondo-Navarro LÁ and Hernández-Rodríguez MF and Eduardo MT and Del Rosario CPM and Arce-Lozoya MA and Ochoa-Padilla E and Rodríguez-Machuca VU},
year = {2026},
journal = {Molecular genetics and metabolism reports},
doi = {10.1016/j.ymgmr.2026.101289},
url = {https://doi.org/10.1016/j.ymgmr.2026.101289}
}RIS
TY - JOUR TI - Congenital disorder of deglycosylation 2. Report of a novel MAN2C1 pathogenic variant and additional phenotypic implications. AU - Aguirre-Guillen RL AU - Arredondo-Navarro LÁ AU - Hernández-Rodríguez MF AU - Eduardo MT AU - Del Rosario CPM AU - Arce-Lozoya MA AU - Ochoa-Padilla E AU - Rodríguez-Machuca VU PY - 2026 JO - Molecular genetics and metabolism reports DO - 10.1016/j.ymgmr.2026.101289 UR - https://doi.org/10.1016/j.ymgmr.2026.101289 ER -
APA
RL, A., LÁ, A., MF, H., MT, E., CPM, D. R., MA, A., E, O., & VU, R. (2026). Congenital disorder of deglycosylation 2. Report of a novel MAN2C1 pathogenic variant and additional phenotypic implications.. Molecular genetics and metabolism reports. https://doi.org/10.1016/j.ymgmr.2026.101289
Source records
- pubmed · retrieved 2026-09-26T17:37:24.243Z