Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations

• Prif Awduron: Si-jia He (Awdur), Dong-jun Li (Awdur), Wen-qiong Lv (Awdur), Wen-hao Tang (Awdur), Shu-wen Sun (Awdur), Yi-ping Zhu (Awdur), Ying Liu (Awdur), Jin Wu (Awdur), Xiao-xi Lu (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: Frontiers Media S.A., 2023-07-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

BackgroundMucolipidosis type II (MLII), or I-cell disease, is a rare lysosomal storage disease (LSD) caused by variants in the GNPTAB gene. MLII patients exhibit clinical phenotypes in the prenatal or neonatal stage, such as marked dysmorphic features, cardiac involvement, respiratory symptoms, dyso...