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

Abstract 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 d...

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Principais autores: Maria Monticelli, Tania D’Onofrio, Jaak Jaeken, Eva Morava, Giuseppina Andreotti, Maria Vittoria Cubellis
格式: Artigo
語言:Inglês
出版: BMC 2023-08-01
叢編:Orphanet Journal of Rare Diseases
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在線閱讀:https://doi.org/10.1186/s13023-023-02852-w
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