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

Febres-Aldana, Christopher A, Pelaez, Liset, Wright, Meredith S et al. (2020). 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 . MOLECULAR SYNDROMOLOGY, 11(5-6), 320-329. 10.1159/000511343

Open Access

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

sustainable development goals

authors

publication date

  • December 1, 2020

published in

keywords

  • Bone marrow failure disorders
  • CELLS
  • Congenital heart defects
  • GALE deficiency
  • GENETICS
  • Galactosemia
  • Genetics & Heredity
  • Glycosylation
  • HYPERTROPHIC PYLORIC-STENOSIS
  • LIGAND
  • Life Sciences & Biomedicine
  • Science & Technology

Digital Object Identifier (DOI)

publisher

  • KARGER

start page

  • 320

end page

  • 329

volume

  • 11

issue

  • 5-6