Výsledky vyhledávání - "Line Gutte Borgwardt"

Akademický článek

Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long‐term velmanase alfa treatment outcomes in patients with alpha‐mannosidosis

Autor: Line Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan Meldgaard Lund

Publikováno v: JIMD Reports, Vol 64, Iss 2, Pp 187-198 (2023)

Abstract Alpha‐mannosidosis (AM), an autosomal recessive disorder caused by pathogenic biallelic variants in the MAN2B1 gene, leads to lysosomal alpha‐mannosidase deficiency and accumulation of mannose‐rich oligosaccharides. Velmanase alfa (VA)

Externí odkaz: https://doaj.org/article/70f1d07fdc024aabb477b895d1046324

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Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long‐term velmanase alfa treatment outcomes in patients with alpha‐mannosidosis

Autor: Line Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan Meldgaard Lund

Publikováno v: JIMD Reports. 64:187-198

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0181a3118e9fb18e5f5986062ea78760
https://doi.org/10.1002/jmd2.12349

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