{"title":"先天性糖基化障碍-一刀切并不适合所有人：父母的观点。","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":"{\"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}","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}
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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