TY  - JOUR 
AU  - Marín Quílez, Ana
AU  - Di Budio, Christian A.
AU  - Benito Sánchez, Rocío
AU  - Balduini, Alessandra
AU  - Rivera, José
AU  - Bastida Bermejo, José María
PY  - 2023
UR  - http://hdl.handle.net/10366/171708
AB  - [EN]GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine. In that way, GALE balances,...
LA  - eng
KW  - Galactosemias
KW  - Thrombocytopenia
KW  - UDPglucose 4-Epimerase
KW  - Humans
KW  - Galactose
KW  - Hemorrhage
KW  - Thrombocytopenia
KW  - Galactose
KW  - Galactosemias
KW  - Hemorrhage
KW  - Humans
KW  - UDPglucose 4-Epimerase
TI  - GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
DO  - 10.1080/09537104.2023.2176699
T2  - Platelets
VL  - 34
M2  - 2176699
ER  -