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

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
Main Authors: Luise Sophie Ammer, Sandra Pohl, Sandra Rafaela Breyer, Charlotte Aries, Jonas Denecke, Anna Perez, Martin Petzoldt, Johanna Schrum, Ingo Müller, Nicole Maria Muschol
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucolipidosis type II
I-cell disease
Lysosomal storage disorder
Hematopoietic stem cell transplantation
Bone marrow cell transplantation
Treatment
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301506

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http://www.sciencedirect.com/science/article/pii/S2214426920301506

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