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
  • , Liset Pelaez
  • , Meredith S. Wright
  • , Ossama M. Maher
  • , Anthony J. Febres-Aldana
  • , Jun Sasaki
  • , Parul Jayakar
  • , Anuj Jayakar
  • , Magaly Diaz-Barbosa
  • , Michelin Janvier
  • , Bala Totapally
  • , Daria Salyakina
  • , Jorge R. Galvez-Silva

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

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Pharmacology, Toxicology and Pharmaceutical Science

Biochemistry, Genetics and Molecular Biology