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Congenital disorders of glycosylation (CDG): state of the art in 2022

Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and encouraging developments in the field. However, m...

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Detalles Bibliográficos
Autores principales: Francisco, Rita, Brasil, Sandra, Poejo, Joana, Jaeken, Jaak, Pascoal, Carlota, Videira, Paula A., dos Reis Ferreira, Vanessa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10585812/
https://www.ncbi.nlm.nih.gov/pubmed/37858231
http://dx.doi.org/10.1186/s13023-023-02879-z