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A Second Case of Glutaminase Hyperactivity: Expanding the Phenotype with Epilepsy

Lynne Rumping,Petra J. W. Pouwels,Nicole I. Wolf,Holger Rehmann,Mirjam M. C. Wamelink,Quinten Waisfisz,Judith J. M. Jans,Hubertus C. M. T. Prinsen,Jiddeke M. van de Kamp,Peter M. van Hasselt

JIMD REPORTS（2023）

Cited 3|Views31
Key words
epilepsy,GLS hyperactivity,glutamate,high-throughput sequencing,phenotypic spectrum
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