Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Line Gutte Borgwardt"'
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
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
https://doi.org/10.1002/jmd2.12349
Autor:
Borgwardt, Line Gutte, Ceravolo, Ferdinando, Zardi, Giulia, Ballabeni, Andrea, Lund, Allan Meldgaard
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Mar2023, Vol. 64 Issue 2, p187-198, 12p
Autor:
Borgwardt, Line1 line.gutte.borgwardt@regionh.dk, Frostad Riise Stensland, Hilde Monica2, Olsen, Klaus Juul3, Wibrand, Flemming1, Klenow, Helle Bagterp2, Beck, Michael4, Amraoui, Yasmina4, Arash, Laila4, Fogh, Jens5, Nilssen, Øivind2,6, Dali, Christine I.1, Meldgaard Lund, Allan1
Publikováno v:
Orphanet Journal of Rare Diseases. Jun2015, Vol. 10 Issue 1, p1-16. 16p.
Publikováno v:
Journal of Inherited Metabolic Disease; Nov2015, Vol. 38 Issue 6, p1119-1127, 9p
Autor:
Borgwardt, L., Dali, C., Fogh, J., Månsson, J., Olsen, K., Beck, H., Nielsen, K., Nielsen, L., Olsen, S., Riise Stensland, H., Nilssen, O., Wibrand, F., Thuesen, A., Pearl, T., Haugsted, U., Saftig, P., Blanz, J., Jones, S., Tylki-Szymanska, A., Guffon-Fouiloux, N.
Publikováno v:
Journal of Inherited Metabolic Disease; Nov2013, Vol. 36 Issue 6, p1015-1024, 10p
Autor:
Borgwardt LG; Department of Paediatrics and Adolescent Medicine Centre for Inherited Metabolic Diseases, Rigshospitalet Copenhagen Denmark.; Center for Genomic Medicine Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark., Ceravolo F; Chiesi Farmaceutici S.p.A Parma Italy., Zardi G; CROS NT S.r.l Verona Italy., Ballabeni A; Chiesi Farmaceutici S.p.A Parma Italy., Lund AM; Department of Paediatrics and Adolescent Medicine Centre for Inherited Metabolic Diseases, Rigshospitalet Copenhagen Denmark.; Department of Clinical Genetics, Centre for Inherited Metabolic Diseases Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Udine Italy.
Publikováno v:
JIMD reports [JIMD Rep] 2022 Nov 25; Vol. 64 (2), pp. 187-198. Date of Electronic Publication: 2022 Nov 25 (Print Publication: 2023).