Treatment of congenital disorders of glycosylation: An overview

IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Dulce Quelhas , Jaak Jaeken
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引用次数: 0

Abstract

While the identification and diagnosis of congenital disorders of glycosylation (CDG) have rapidly progressed, the available treatment options are still quite limited. Mostly, we are only able to manage the disease symptoms rather than to address the underlying cause. However, recent years have brought about remarkable advances in treatment approaches for some CDG. Innovative therapies, targeting both the root cause and resulting manifestations, have transitioned from the research stage to practical application. The present paper aims to provide a detailed overview of these exciting developments and the rising concepts that are used to treat these ultra-rare diseases.

先天性糖基化紊乱的治疗:概述
虽然先天性糖基化紊乱(CDG)的识别和诊断工作进展迅速,但现有的治疗方案仍然相当有限。大多数情况下,我们只能控制疾病症状,而不能解决根本原因。然而,近年来一些 CDG 的治疗方法取得了显著进展。针对疾病根源和表现的创新疗法已从研究阶段过渡到实际应用阶段。本文旨在详细概述这些令人振奋的进展以及用于治疗这些超罕见疾病的新兴概念。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Molecular genetics and metabolism
Molecular genetics and metabolism 生物-生化与分子生物学
CiteScore
5.90
自引率
7.90%
发文量
621
审稿时长
34 days
期刊介绍: Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.
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