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 Article

cited authors

  • 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; Totapally, Bala; Salyakina, Daria; Galvez-Silva, Jorge R.

fiu authors

publication date

  • December 1, 2020


published in

author keyword


Digital Object Identifier (DOI)

start page

  • 320

end page

  • 329


  • 11


  • 5-6