Associated Papers
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
37587458 (PubMed )
Supplement: 12864_2023_9561_MOESM1_ESM.xlsx › CuratedVariants
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
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
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
DesRoches CL et al.
Human Mutation, 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
Defining the pathogenicity of creatine deficiency syndrome.
Alcaide P et al.
Human Mutation, 2011
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
Sempere A et al.
Journal of Inherited Metabolic Disease, 2010
GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management.
Almaghrabi MA et al.
Child Neurology Open, 0
Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase.
Alyazidi AS et al.
Journal of Microscopy and Ultrastructure, 0
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