Congenital disorders of glycosylation: narration of a story through its patents

Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of them are still missing a cure. CDG diagnosis...

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Detalles Bibliográficos
Autores principales: Monticelli, Maria, D’Onofrio, Tania, Jaeken, Jaak, Morava, Eva, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466741/
https://www.ncbi.nlm.nih.gov/pubmed/37644541
http://dx.doi.org/10.1186/s13023-023-02852-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466741/
https://www.ncbi.nlm.nih.gov/pubmed/37644541
http://dx.doi.org/10.1186/s13023-023-02852-w

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