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

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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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
Series:Orphanet Journal of Rare Diseases
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
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https://doi.org/10.1186/s13023-024-03389-2

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