Associated Papers
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.
Mercimek-Mahmutoglu S et al.
Gene, 2016
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Desroches CL et al.
Molecular Genetics and Genomics : Mgg, 2015
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Mercimek-Mahmutoglu S et al.
Human Mutation, 2014
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