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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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Shipley, Katie Lynne
2019.
Identifying and treating the mechanisms leading to cellular
dysfunction in a rare form of childhood epilepsy (late
infantile neuronal ceroid lipofuscinosis, CLN5 disease).
PhD Thesis,
Cardiff University.
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