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
Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.
Cameron JM et al.
International Journal of Molecular Sciences, 2017
28758966 (PubMed )
Supplement: ijms-18-01665-s001.zip › Supp_Table_2_Summary_of_GAMT_gene_sequencing_results_divided_by_population.xlsx › Sheet1
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.pdf
A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.
Leuzzi V et al.
Molecular Genetics and Metabolism, 2006
Characterization of seven novel mutations in seven patients with GAMT deficiency.
Item CB et al.
Human Mutation, 2004
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