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Best, Hannah L., Badell-Grau, Rafael A., Shipley, Katie, Alshehri, Abdullah S., Waller-Evans, Helen  ORCID: https://orcid.org/0000-0003-4133-6064 and Lloyd-Evans, Emyr ORCID: https://orcid.org/0000-0002-3626-1611
2023.
Disease phenotypes present in CLN7 patient fibroblasts are improved following treatment to reduce glycosphingolipid synthesis.
Presented at: 19th Annual WORLDSymposium™ 2023,
Orlando, Florida,
21-26 February 2023.
Molecular Genetics and Metabolism.
, vol.138
(2)
Elsevier,
p. 17.
10.1016/j.ymgme.2022.107029
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Lloyd-Evans, Emyr ORCID: https://orcid.org/0000-0002-3626-1611, Best, Hannah L., Alshehri, Abdullah S., Honeybun, Llinos and Waller-Evans, Helen ORCID: https://orcid.org/0000-0003-4133-6064
2023.
Glycosphingolipid reduction with miglustat as a therapeutic strategy for CLN3 and other neuronal ceroid lipofuscinoses.
Presented at: 19th Annual WORLDSymposium™ 2023,
Orlando, Florida,
21-26 February 2023.
Molecular Genetics and Metabolism.
, vol.138
(2)
Elsevier,
p. 84.
10.1016/j.ymgme.2022.107212
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Alshehri, Abdullah
2019.
Identifying and characterizing lysosomal storage
disease phenotypes for utilization in novel
screening and monitoring assays.
PhD Thesis,
Cardiff University.
Item availability restricted. |
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