학술논문

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.
Document Type
Article
Source
Molecular Syndromology; 2020, Vol. 11 Issue 5/6, p320-330, 10p
Subject
Language
ISSN
16618769