Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

BACKGROUND: Mucolipidosis type II (MLII) is an ultra-rare lysosomal storage disorder caused by defective lysosomal enzyme trafficking. Clinical hallmarks are craniofacial dysmorphia, cardiorespiratory dysfunction, hepatosplenomegaly, skeletal deformities and neurocognitive retardation. Death usually...

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Bibliographic Details
Published in:Mol Genet Metab Rep
Main Authors: Ammer, Luise Sophie, Pohl, Sandra, Breyer, Sandra Rafaela, Aries, Charlotte, Denecke, Jonas, Perez, Anna, Petzoldt, Martin, Schrum, Johanna, Müller, Ingo, Muschol, Nicole Maria
Format: Artigo
Language:Inglês
Published: Elsevier 2021
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Research Paper
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7815485/
https://ncbi.nlm.nih.gov/pubmed/33505859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100704
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