TY  - GEN 
AU  - Derks, B.
AU  - Demirbas, D.
AU  - Arantes, R.R.
AU  - Banford, S.
AU  - Burlina, A.B.
AU  - Cabrera, A.
AU  - Chiesa, A.
AU  - Couce Pico, María Luz
AU  - Dionisi-Vici, C.
AU  - Gautschi, M.
AU  - Grünewald, S.
AU  - Morava, E.
AU  - Möslinger, D.
AU  - Scholl-Bürgi, S.
AU  - Skouma, A.
AU  - Stepien, K.M.
AU  - Timson, D.J.
AU  - Berry, G.T.
AU  - Rubio-Gozalbo, M.E.
PY  - 2022
SN  - 1750-1172
UR  - http://hdl.handle.net/20.500.11940/20658
AB  - 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...
LA  - eng
TI  - Galactose epimerase deficiency: lessons from the GalNet registry
DO  - 10.1186/s13023-022-02494-4
KW  - AS Santiago
KW  - CHUS
KW  - IDIS
VL  - 17
ER  -