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

Abstract 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. H...

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Bibliografiske detaljer

Principais autores:	Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A. Videira, Vanessa dos Reis Ferreira
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2023-10-01
Serier:	Orphanet Journal of Rare Diseases
Fag:	Congenital disorders of glycosylation (CDG) Rare diseases Disease classification Nosology
Online adgang:	https://doi.org/10.1186/s13023-023-02879-z
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