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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.
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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SAGE Publications
2022
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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 |
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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