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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	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
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	BMC 2024-11-01
Sarja:	Orphanet Journal of Rare Diseases
Aiheet:	Congenital disorders of glycosylation (CDG) Patient journey Diagnostic odyssey journey Community-centered research Rare diseases
Linkit:	https://doi.org/10.1186/s13023-024-03389-2
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