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

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

Abstract 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 feasi...

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Bibliographic Details
Main Authors: Lucia Santoro, Lucia Zampini, Lucia Padella, Chiara Monachesi, Stefania Zampieri, Andrea Dardis, Rosanna Cordiali, Tiziana Galeazzi, Carlo Catassi
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:JIMD Reports
Subjects:
alpha mannosidosis
enzyme replacement therapy
Hematopoietic cell transplantation
liquid chromatography coupled with tandem mass spectrometry
oligosaccharides
thin layer chromatography
Online Access:https://doi.org/10.1002/jmd2.12144

Internet

https://doi.org/10.1002/jmd2.12144

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