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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:JIMD Rep
Autori principali: Santoro, Lucia, Zampini, Lucia, Padella, Lucia, Monachesi, Chiara, Zampieri, Stefania, Dardis, Andrea, Cordiali, Rosanna, Galeazzi, Tiziana, Catassi, Carlo
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Inc. 2020
Soggetti:
Case Reports
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi