BiochemistryInternational Journal of Molecular SciencesPeer-reviewed
Niemann-Pick C-like endo-lysosomal dysfunction in DHDDS patient cells, a congenital disorder of glycosylation, can be treated with miglustat
Hannah L. Best, Sophie R. Cook, Helen Waller‐Evans, Emyr Lloyd‐Evans
This study shows that DHDDS patient cells exhibit lysosomal dysfunction and lipid accumulation, which can be mitigated by miglustat, a treatment approved for NPC disease.
6 citations