Detalles de la búsqueda
1.
Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.
J Inherit Metab Dis
; 2024 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38618884
2.
The Voltage Dependent Sidedness of the Reprotonation of the Retinal Schiff Base Determines the Unique Inward Pumping of Xenorhodopsin.
Angew Chem Int Ed Engl
; 60(42): 23010-23017, 2021 10 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34339559
3.
In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease.
Mol Genet Metab Rep
; 38: 101029, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38469097
4.
Elevated interleukin-8 expression by skin fibroblasts as a potential contributor to pain in women with Fabry disease.
PLoS One
; 19(4): e0300687, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38593151
5.
Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.
Brain Commun
; 6(2): fcae095, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38638148
6.
Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease.
Stem Cell Res
; 61: 102747, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35325818
7.
Dysregulation of Immune Response Mediators and Pain-Related Ion Channels Is Associated with Pain-like Behavior in the GLA KO Mouse Model of Fabry Disease.
Cells
; 11(11)2022 05 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-35681422
8.
Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype in Fabry disease.
Stem Cell Res
; 67: 103025, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36640471
Resultados
1 -
8
de 8
1
Próxima >
>>