Related references
Note: Only part of the references are listed.Evaluation of non-coding variation in GLUT1 deficiency
Yu-Chi Liu et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2016)
A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation
Nadine C. Hornig et al.
PLOS ONE (2016)
From splitting GLUT1 deficiency syndromes to overlapping phenotypes
Marie Hully et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2015)
Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen et al.
NATURE (2014)
Absence of SLC2A1 Mutations Does Not Exclude Glut1 Deficiency Syndrome
Joerg Klepper
NEUROPEDIATRICS (2013)
Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome A Systematic Review
Wilhelmina G. Leen et al.
JAMA NEUROLOGY (2013)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Glut1 deficiency syndrome and erythrocyte glucose uptake assay
Hong Yang et al.
ANNALS OF NEUROLOGY (2011)
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
Natsuko Hashimoto et al.
JOURNAL OF HUMAN GENETICS (2011)
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G. Leen et al.
BRAIN (2010)