Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective

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.

Detalles Bibliográficos
Autor principal: Feinberg, Konstantin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
New therapies in inborn errors of metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032444/
https://www.ncbi.nlm.nih.gov/pubmed/37180418
http://dx.doi.org/10.1177/26330040221118099
Descripción
Sumario: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.

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