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
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author Feinberg, Konstantin
author_facet Feinberg, Konstantin
author_sort Feinberg, Konstantin
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description 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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spelling pubmed-100324442023-05-11 Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective Feinberg, Konstantin Ther Adv Rare Dis New therapies in inborn errors of metabolism 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. SAGE Publications 2022-08-22 /pmc/articles/PMC10032444/ /pubmed/37180418 http://dx.doi.org/10.1177/26330040221118099 Text en © The Author(s), 2022 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle New therapies in inborn errors of metabolism
Feinberg, Konstantin
Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective
title Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective
title_full Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective
title_fullStr Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective
title_full_unstemmed Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective
title_short Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective
title_sort congenital disorder of glycosylation – one size does not fit all: a parent’s perspective
topic New therapies in inborn errors of metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032444/
https://www.ncbi.nlm.nih.gov/pubmed/37180418
http://dx.doi.org/10.1177/26330040221118099
work_keys_str_mv AT feinbergkonstantin congenitaldisorderofglycosylationonesizedoesnotfitallaparentsperspective

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