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

BACKGROUND: Mucolipidosis 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, dy...

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Detalles Bibliográficos
Autores principales:	He, Si-jia, Li, Dong-jun, Lv, Wen-qiong, Tang, Wen-hao, Sun, Shu-wen, Zhu, Yi-ping, Liu, Ying, Wu, Jin, Lu, Xiao-xi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359890/ https://www.ncbi.nlm.nih.gov/pubmed/37484777 http://dx.doi.org/10.3389/fped.2023.1199489

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