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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Detalhes bibliográficos
Autor principal: Mendes,Ana Raquel (author)
Outros Autores: Quelhas,Dulce (author), Correia,Joana (author), Coelho,Margarida Paiva (author), Bandeira,Anabela (author), Martins,Esmeralda (author)
Formato: article
Idioma:eng
Publicado em: 2022
Assuntos:
Texto completo:http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542022000100038
País:Portugal
Oai:oai:scielo:S0872-07542022000100038