TY - JOUR T1 - MAN1B-CDG: Novel variants with a distinct phenotype and review of literature JO - European Journal of Medical Genetics UR - https://eprints.whiterose.ac.uk/id/eprint/133111 PY - 2019/02/01 AU - Balasubramanian M AU - Johnson DS AU - DDD Study ED - DO - DOI: 10.1016/j.ejmg.2018.06.011 PB - Elsevier VL - 62 IS - 2 SP - 109 EP - 114 Y2 - 2025/11/06 ER -