FCDGC: Report on New Patient with DDOST-Congenital Disorder of Glycosylation Reveals New Insights for Diagnosis and Management

7 de nov. de 2022 · 2m 11s

New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on October 10,...

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New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on October 10, 2022, titled "DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype."

Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12565

Learn more about FCDGC: https://www.rarediseasesnetwork.org/fcdgc

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