ArticleMolecular syndromology2020

A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.

Christopher A Febres-Aldana et al.PubMed ↗Full text ↗Publisher ↗

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