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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Detalles Bibliográficos
Autores principales: Santoro, Lucia, Zampini, Lucia, Padella, Lucia, Monachesi, Chiara, Zampieri, Stefania, Dardis, Andrea, Cordiali, Rosanna, Galeazzi, Tiziana, Catassi, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463052/
https://www.ncbi.nlm.nih.gov/pubmed/32905047
http://dx.doi.org/10.1002/jmd2.12144

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463052/
https://www.ncbi.nlm.nih.gov/pubmed/32905047
http://dx.doi.org/10.1002/jmd2.12144

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