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Frontiers in congenital disorders of glycosylation consor... | ResearchHub

Paper

Paper

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Journal

Molecular Genetics and Metabolism

Topics

Internal Medicine

Nutrition And Dietetics

DOI

10.1016/j.ymgme.2024.108509

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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

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Authors

Christina Lam

Christina Lam•Fernando Scaglia•Éva Morava

Published

June 6, 2024

Abstract

Our report describes clinical, genetic, and biochemical features of participants with a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers in Congenital Disorders of Glycosylation (FCDGC) Natural History cohort at year 5 of the study.

Supporters

Support the authors with ResearchCoin

Journal

Molecular Genetics and Metabolism

Topics

Internal Medicine

Nutrition And Dietetics

DOI

10.1016/j.ymgme.2024.108509