Congenital disorders of glycosylation

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 dominant or X-...

ver descrição completa

Detalhes bibliográficos
Autor principal: Mendes, Ana Raquel (author)
Outros Autores: Quelhas, Dulce (author), Correia, Joana (author), Paiva Coelho, Margarida (author), Bandeira, Anabela (author), Martins, Esmeralda (author)
Formato: article
Idioma:eng
Publicado em: 2022
Assuntos:
Texto completo:https://doi.org/10.25753/BirthGrowthMJ.v31.i1.26341
País:Portugal
Oai:oai:ojs.revistas.rcaap.pt:article/26341