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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 |
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author | Feinberg, Konstantin |
author_facet | Feinberg, Konstantin |
author_sort | Feinberg, Konstantin |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-10032444 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
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 |