Congenital disorders of glycosylation

Abstract Congenital disorders of glycosylation are a highly variable, rapidly expanding family of genetic diseases that result from defects in the synthesis of glycans. The vast majority of these monogenic diseases are inherited in an autosomal recessive way, but some types follow an autosomal domin...

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Bibliographic Details
Main Author: Mendes,Ana Raquel (author)
Other Authors: Quelhas,Dulce (author), Correia,Joana (author), Coelho,Margarida Paiva (author), Bandeira,Anabela (author), Martins,Esmeralda (author)
Format: article
Language:eng
Published: 2022
Subjects:
Online Access:http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542022000100038
Country:Portugal
Oai:oai:scielo:S0872-07542022000100038