Congenital disorder of glycosylation - one size does not fit all: a parent's perspective.

Published in: Therapeutic advances in rare disease (2022)

This 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.

Keyphrases

mental health
smoking cessation