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

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

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...

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Bibliographic Details
Main Authors: Si-jia He, Dong-jun Li, Wen-qiong Lv, Wen-hao Tang, Shu-wen Sun, Yi-ping Zhu, Ying Liu, Jin Wu, Xiao-xi Lu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Pediatrics
Subjects:
mucolipidosis type II (MLII)
GNPTAB
sanger sequencing
hematopoietic stem cell transplantation
treatment
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1199489/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1199489/full

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