Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community

Abstract Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidate this diagnostic journey by examining families’ a...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-11-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Congenital disorders of glycosylation (CDG) Patient journey Diagnostic odyssey journey Community-centered research Rare diseases
Acesso em linha:	https://doi.org/10.1186/s13023-024-03389-2
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!