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Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Autor: Pavlova, Elena V, Lev, Dorit, Michelson, Marina, Yosovich, Keren, Michaeli, Hila Gur, Bright, Nicholas A, Manna, Paul T, Dickson, Veronica Kane, Tylee, Karen L, Church, Heather J, Luzio, J Paul, Cox, Timothy M

Funder: Cambridge Biomedical Research Centre supported by the National Institute of Health Research
Funder: Global Challenges Research Fund
Funder: Medical Research Council
Funder: Global Challenge Research Grant, Research England GCRF

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3d761d6dbc2f544c6501dd2c674d680

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type 1

Autor: Faller, Kiterie, Ridyard, Alison, Gutierrez-Quintana, R, Rupp, Angie, Kun-Rodrigues, Celia, Orme, Tatiana, Tylee, Karen L., Church, Heather J., Guerreiro, Rita, Bras, Jose M.

Publikováno v: Faller, K, Ridyard, A, Gutierrez-Quintana, R, Rupp, A, Kun-Rodrigues, C, Orme, T, Tylee, K L, Church, H J, Guerreiro, R & Bras, J M 2020, ' A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type 1 ', Journal of Veterinary Internal Medicine . https://doi.org/10.1111/jvim.15868

Background: Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder caused by a deficiency of the enzyme α-L-iduronidase, leading to accumulation of undegraded dermatan and heparan sulphates in the cells and secondary multi-organ dysfun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::ff50168624af25cbbf3921fe0cbd50cb
https://hdl.handle.net/20.500.11820/ad2e2693-7932-49a7-805e-7e60ad45a230

Biochemical Engraftment and Clinical Outcomes Following Ex-Vivo Autologous Stem Cell Gene Therapy for Mucopolysaccharidosis Type IIIA

Autor: Wynn, Robert F, Kinsella, Jane L ^*, Holley, Rebecca J ^*, Potter, Jane ^*, Thrasher, Adrian J. ^*, Booth, Claire ^*, Buckland, Karen ^*, Izotova, Natalia ^*, Rust, Stewart ^*, Weisberg, Daniel ^*, Church, Heather J ^*, Tylee, Karen L ^*, Brammeier, Kathryn L ^*, Lee, Helena ^*, Ford, Laura ^*, Sadegholnejat, Atusa ^*, Jones, Simon A ^*, Ellison, Stuart ^*, Bigger, Brian ^*

Publikováno v: In Blood 15 November 2022 140 Supplement 1:1897-1898

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