childhood onset GLUT1 deficiency syndrome 2

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Summary

Literature (1)

Literature for DOID 0090045: childhood onset GLUT1 deficiency syndrome 2

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome., Flatt JF,Guizouarn H,Burton NM,Borgese F,Tomlinson RJ,Forsyth RJ,Baldwin SA,Levinson BE,Quittet P,Aguilar-Martinez P,Delaunay J,Stewart GW,Bruce LJ, Blood. November 10, 2011; 118(19):1528-0020.

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome., Flatt JF,Guizouarn H,Burton NM,Borgese F,Tomlinson RJ,Forsyth RJ,Baldwin SA,Levinson BE,Quittet P,Aguilar-Martinez P,Delaunay J,Stewart GW,Bruce LJ, Blood. November 10, 2011; 118(19):1528-0020.