Article
Galactose epimerase deficiency: lessons from the GalNet registry.
Orphanet journal of rare diseases - 2 Sept 2022
Derks Britt, Demirbas Didem, Arantes Rodrigo R, Banford Samantha, Burlina Alberto B, Cabrera Analía, Chiesa Ana, Couce M Luz, Dionisi-Vici Carlo, Gautschi Matthias, Grünewald Stephanie, Morava Eva, Möslinger Dorothea, Scholl-Bürgi Sabine, Skouma Anastasia, Stepien Karolina M, Timson David J, Berry Gerard T, Rubio-Gozalbo M Estela
Abstract excerpt
BACKGROUND: Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficiency from different countries included through the Galactosemia Network to further expand the existing knowledge and review the current diagnostic strategy, treatment and follow-up of this not well...
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