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Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis

Alpha mannosidosis is an ultrarare pathology with variable phenotypic manifestations, characterized by the deficiency of lysosomal alpha mannosidase which causes accumulation of neutral oligosaccharides. Until recently, the hematopoietic stem cell transplantation was the only clinical feasible thera...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Santoro, Lucia, Zampini, Lucia, Padella, Lucia, Monachesi, Chiara, Zampieri, Stefania, Dardis, Andrea, Cordiali, Rosanna, Galeazzi, Tiziana, Catassi, Carlo
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7463052/
https://ncbi.nlm.nih.gov/pubmed/32905047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12144
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