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

• Main Authors: Si-jia He (Author), Dong-jun Li (Author), Wen-qiong Lv (Author), Wen-hao Tang (Author), Shu-wen Sun (Author), Yi-ping Zhu (Author), Ying Liu (Author), Jin Wu (Author), Xiao-xi Lu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-07-01T00:00:00Z.
• Subjects: article
• Online Access: 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...