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Treatment Options in Congenital Disorders of Glycosylation

Despite advances in the identification and diagnosis of congenital disorders of glycosylation (CDG), treatment options remain limited and are often constrained to symptomatic management of disease manifestations. However, recent years have seen significant advances in treatment and novel therapies a...

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Detalles Bibliográficos
Autores principales: Park, Julien H., Marquardt, Thorsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8461064/
https://www.ncbi.nlm.nih.gov/pubmed/34567084
http://dx.doi.org/10.3389/fgene.2021.735348
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author Park, Julien H.
Marquardt, Thorsten
author_facet Park, Julien H.
Marquardt, Thorsten
author_sort Park, Julien H.
collection PubMed
description Despite advances in the identification and diagnosis of congenital disorders of glycosylation (CDG), treatment options remain limited and are often constrained to symptomatic management of disease manifestations. However, recent years have seen significant advances in treatment and novel therapies aimed both at the causative defect and secondary disease manifestations have been transferred from bench to bedside. In this review, we aim to give a detailed overview of the available therapies and rising concepts to treat these ultra-rare diseases.
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spelling pubmed-84610642021-09-25 Treatment Options in Congenital Disorders of Glycosylation Park, Julien H. Marquardt, Thorsten Front Genet Genetics Despite advances in the identification and diagnosis of congenital disorders of glycosylation (CDG), treatment options remain limited and are often constrained to symptomatic management of disease manifestations. However, recent years have seen significant advances in treatment and novel therapies aimed both at the causative defect and secondary disease manifestations have been transferred from bench to bedside. In this review, we aim to give a detailed overview of the available therapies and rising concepts to treat these ultra-rare diseases. Frontiers Media S.A. 2021-09-10 /pmc/articles/PMC8461064/ /pubmed/34567084 http://dx.doi.org/10.3389/fgene.2021.735348 Text en Copyright © 2021 Park and Marquardt. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Park, Julien H.
Marquardt, Thorsten
Treatment Options in Congenital Disorders of Glycosylation
title Treatment Options in Congenital Disorders of Glycosylation
title_full Treatment Options in Congenital Disorders of Glycosylation
title_fullStr Treatment Options in Congenital Disorders of Glycosylation
title_full_unstemmed Treatment Options in Congenital Disorders of Glycosylation
title_short Treatment Options in Congenital Disorders of Glycosylation
title_sort treatment options in congenital disorders of glycosylation
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8461064/
https://www.ncbi.nlm.nih.gov/pubmed/34567084
http://dx.doi.org/10.3389/fgene.2021.735348
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