Expanded phenotypic spectrum of <scp>UDP</scp>‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy
- DOI
- 10.1002/ajmg.a.63820
- Published
- 2024-07-12
- Container
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1002/ajmg.a.63820,
title = {Expanded phenotypic spectrum of <scp>UDP</scp>‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy},
author = {Pauline Plante‐Bordeneuve and Simon Boussion and Mélanie Rama and Perrine Brunelle and Caroline Thuillier and Clémence Vanlerberghe and Roseline Caumes and Cindy Colson and Emilie Ait‐Yahya and Jamal Ghoumid and Thomas Smol},
year = {2024},
journal = {American Journal of Medical Genetics Part A},
doi = {10.1002/ajmg.a.63820},
url = {https://doi.org/10.1002/ajmg.a.63820}
}RIS
TY - JOUR TI - Expanded phenotypic spectrum of <scp>UDP</scp>‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy AU - Pauline Plante‐Bordeneuve AU - Simon Boussion AU - Mélanie Rama AU - Perrine Brunelle AU - Caroline Thuillier AU - Clémence Vanlerberghe AU - Roseline Caumes AU - Cindy Colson AU - Emilie Ait‐Yahya AU - Jamal Ghoumid AU - Thomas Smol PY - 2024 JO - American Journal of Medical Genetics Part A DO - 10.1002/ajmg.a.63820 UR - https://doi.org/10.1002/ajmg.a.63820 ER -
APA
Plante‐Bordeneuve, P., Boussion, S., Rama, M., Brunelle, P., Thuillier, C., Vanlerberghe, C., Caumes, R., Colson, C., Ait‐Yahya, E., Ghoumid, J., & Smol, T. (2024). Expanded phenotypic spectrum of <scp>UDP</scp>‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.63820
Source records
- crossref · retrieved 2026-09-27T10:25:31.872Z