Associated Papers
Structure and enzymology of glutaminase mutants that disrupt glutamine-glutamate homeostasis and cause neurological disease.
Crane CS et al.
Biorxiv : the Preprint Server for Biology, 2025
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71.
Bazgir A et al.
Neurogenetics, 2024
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
Rumping L et al.
Jimd Reports, 2023
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