Associated Papers
Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy.
Oh DE et al.
Scientific Reports, 2025
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Roifman M et al.
Clinical Genetics, 2020
A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency.
Ünal Ö et al.
Neuropediatrics, 2019
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