Associated Papers
Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.
Afjei SA et al.
Neurogenetics, 2023
Adult GAMT deficiency: A literature review and report of two siblings.
Modi BP et al.
Molecular Genetics and Metabolism Reports, 2021
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Khaikin Y et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
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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