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

1 Nov 2024

Abstract excerpt

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’ and professionals’ experiences. Results and discussion A questionnaire was designed for CDG families and...

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PMID: 39482754
DOI: 10.1186/s13023-024-03389-2

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