Associated Papers
TMEM119 (c.G143A, p.S48L) Mutation Is Involved in Primary Failure of Eruption by Attenuating Glycolysis-Mediated Osteogenesis.
Xu M et al.
International Journal of Molecular Sciences, 2024
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Castellotti B et al.
Journal of Neurology, 2019
The face of Glut1-DS patients: A 3D Craniofacial Morphometric Analysis.
Pucciarelli V et al.
Clinical Anatomy (new York, N.y.), 2017
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M et al.
European Journal of Medical Genetics, 2015
Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype.
Veggiotti P et al.
Brain & Development, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG et al.
Brain : a Journal of Neurology, 2010
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