Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant
- DOI
- 10.1186/s13148-026-02135-8
- Published
- 2026-04-19
- Container
- Clinical Epigenetics
- Publisher
- Springer Science and Business Media LLC
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1186/s13148-026-02135-8,
title = {Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant},
author = {Martina Škopková and Pavlína Kabelíková and Andrea Andrésová and Katarína Brennerová and Silvia Dallemule and Miroslav Sabo and Róbert Petrovič and Daniela Gašperíková},
year = {2026},
journal = {Clinical Epigenetics},
doi = {10.1186/s13148-026-02135-8},
url = {https://doi.org/10.1186/s13148-026-02135-8}
}RIS
TY - JOUR TI - Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant AU - Martina Škopková AU - Pavlína Kabelíková AU - Andrea Andrésová AU - Katarína Brennerová AU - Silvia Dallemule AU - Miroslav Sabo AU - Róbert Petrovič AU - Daniela Gašperíková PY - 2026 JO - Clinical Epigenetics DO - 10.1186/s13148-026-02135-8 UR - https://doi.org/10.1186/s13148-026-02135-8 ER -
APA
Škopková, M., Kabelíková, P., Andrésová, A., Brennerová, K., Dallemule, S., Sabo, M., Petrovič, R., & Gašperíková, D. (2026). Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant. Clinical Epigenetics. https://doi.org/10.1186/s13148-026-02135-8
Source records
- crossref · retrieved 2026-09-27T11:27:02.190Z