Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency.
Binsfeld R et al.
International Journal of Molecular Sciences, 2026
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
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
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.
Rossi L et al.
Genes, 2021
Adult GAMT deficiency: A literature review and report of two siblings.
Modi BP et al.
Molecular Genetics and Metabolism Reports, 2021
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
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M et al.
Biochimie, 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
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S et al.
Molecular Genetics and Metabolism, 2014
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
Mercimek-Mahmutoglu S et al.
Molecular Genetics and Metabolism, 2012
Polymorphisms and disease: hotspots of inactivation in methyltransferases.
Rutherford K et al.
Trends in Biochemical Sciences, 2010
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
Dhar SU et al.
Molecular Genetics and Metabolism, 2009
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.
Almeida LS et al.
Molecular Genetics and Metabolism, 2007
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts.
Almeida LS et al.
Molecular Genetics and Metabolism, 2006
Laboratory diagnosis of defects of creatine biosynthesis and transport.
Verhoeven NM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
Caldeira Araújo H et al.
American Journal of Medical Genetics. Part A, 2005
Characterization of seven novel mutations in seven patients with GAMT deficiency.
Item CB et al.
Human Mutation, 2004
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
Item CB et al.
Molecular Genetics and Metabolism, 0
[Cerebral creatine deficiency syndromes].
Malheiro R et al.
Acta Medica Portuguesa, 0
Case Series of Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency.
Narayan V et al.
Annals of Indian Academy of Neurology, 0