Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group

BACKGROUND: Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is a chronic progressive neurodegenerative storage disorder caused by a deficiency of lysosomal sulfamidase. The clinical hallmarks are sleep disturbances, behavioral abnormalities and loss of cognitive, speech and motor a...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Köhn, Anja F., Grigull, Lorenz, du Moulin, Marcel, Kabisch, Sarah, Ammer, Luise, Rudolph, Cornelia, Muschol, Nicole M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7093801/
https://ncbi.nlm.nih.gov/pubmed/32226768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100578
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