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...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	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
Format:	Article
Language:	English
Published:	BMC 2024-11-01
Subjects:	Congenital disorders of glycosylation (CDG) Patient journey Diagnostic odyssey journey Community-centered research Rare diseases
Online Access:	https://doi.org/10.1186/s13023-024-03389-2