@article{article, title = {{MAN1B-CDG: Novel variants with a distinct phenotype and review of literature}}, publisher = {{Elsevier}}, url = {{https://eprints.whiterose.ac.uk/id/eprint/133111 }}, year = {{2019}}, month = {{2}}, author = {{Balasubramanian M and Johnson DS and DDD Study}}, doi = {{10.1016/j.ejmg.2018.06.011}}, volume = {{62}}, journal = {{European Journal of Medical Genetics}}, issue = {{2}}, pages = {{109-114}}, note = {{Accessed on 2025/11/06}}}