ORCA
Online Research @ CardiffÂ
Browse by All Cardiff Authors
![[up]](/style/images/multi_up.png)
Up a levelNumber of items: 2.
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
|
|
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.
Item availability restricted. |
|
Cardiff University Information Services