Browsing by Subject "Protein glycosylation"
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Item Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective(Sage, 2022-08-22) Feinberg, Konstantin; Surgery, School of MedicineThis article is written by the parent of a child living with PMM2-congenital disorder of glycosylation (abbreviated to PMM2-CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label treatment with epalrestat.