A Case of UDP-Galactose 4′-Epimerase Deficiency...

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Molecular Syndromology 2020 / 10

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

Febres-Aldana, Christopher A., Pelaez, Liset, Wright, Meredith S., Maher, Ossama M., Febres-Aldana, Anthony J., Sasaki, Jun, Jayakar, Parul, Jayakar, Anuj, Diaz-Barbosa, Magaly, Janvier, Michelin, Tot
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Journal:
Molecular Syndromology
DOI:
10.1159/000511343
Date:
October, 2020
File:
PDF, 1.28 MB
2020
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