Associated Papers
Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy.
Oh DE et al.
Scientific Reports, 2025
Glutamine synthetase as a central element in hepatic glutamine and ammonia metabolism: novel aspects.
Frieg B et al.
Biological Chemistry, 2021
NAD+ homeostasis in human health and disease.
Zapata-Pérez R et al.
Embo Molecular Medicine, 2021
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Roifman M et al.
Clinical Genetics, 2020
Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis.
Spodenkiewicz M et al.
Biology, 2016
Molecular Mechanisms of Glutamine Synthetase Mutations that Lead to Clinically Relevant Pathologies.
Frieg B et al.
Plos Computational Biology, 2016
Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.
Hu L et al.
Journal of Inherited Metabolic Disease, 2015
Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.
Häberle J et al.
Orphanet Journal of Rare Diseases, 2012
Natural course of glutamine synthetase deficiency in a 3 year old patient.
Häberle J et al.
Molecular Genetics and Metabolism, 2011
Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid.
Bennett J et al.
Child Neurology Open, 0
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