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Updated: Jun 14, 2025

Targeting Cysteine Thiols for in Vitro Site-specific Glycosylation of Recombinant Proteins
Published on: October 4, 2017
Treatment of congenital disorders of glycosylation: An overview
1Unidade de Bioquímica Genética, Serviço de Genética Laboratorial, Centro de Genética Médica, Clínica de Genética e Patologia, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal; Centro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal.
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.
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