{"title":"Congenital disorder of glycosylation - one size does not fit all: a parent's perspective.","authors":"Konstantin Feinberg","doi":"10.1177/26330040221118099","DOIUrl":null,"url":null,"abstract":"<p><p>This article is written by the parent of a child living with <i>PMM2</i>-congenital disorder of glycosylation (abbreviated to <i>PMM2</i>-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.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221118099"},"PeriodicalIF":0.0000,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/92/6f/10.1177_26330040221118099.PMC10032444.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Therapeutic advances in rare disease","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/26330040221118099","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
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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