Associated Papers
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants.
Dutta D et al.
Journal of Human Genetics, 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
Resource: A compendium of HLA types and expression in pediatric cancer models.
Guan Y et al.
Iscience, 2025
Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency.
Lee A et al.
Jimd Reports, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Goldstein J et al.
Molecular Genetics and Metabolism, 2024
Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.
Yıldız Y et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Guanidinoacetate N-methyltransferase deficiency: Case report and brief review of the literature.
Libell JL et al.
Radiology Case Reports, 2023
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
Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes.
Mulik C et al.
Turkish Archives of Pediatrics, 2023
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Adult GAMT deficiency: A literature review and report of two siblings.
Modi BP et al.
Molecular Genetics and Metabolism Reports, 2021
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.
Kritioti E et al.
Plos One, 2021
Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center.
Yoldaş TÇ et al.
The Turkish Journal of Pediatrics, 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
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M et al.
Biochimie, 2015
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
Volk A et al.
Molecular Syndromology, 2015
Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.
Mercimek-Mahmutoglu S et al.
Pediatric Neurology, 2014
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
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
Pasquali M et al.
Journal of Inherited Metabolic Disease, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.
Viau KS et al.
Molecular Genetics and Metabolism, 2013
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
El-Gharbawy AH et al.
Molecular Genetics and Metabolism, 2013
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
Mercimek-Mahmutoglu S et al.
Molecular Genetics and Metabolism, 2012
Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?
Mercimek-Mahmutoglu S et al.
Molecular Genetics and Metabolism, 2012
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.
Mercimek-Mahmutoglu S et al.
Molecular Genetics and Metabolism, 2012
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
Engelke UF et al.
Nmr in Biomedicine, 2009
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
Dhar SU et al.
Molecular Genetics and Metabolism, 2009
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.
Morris AA et al.
Journal of Inherited Metabolic Disease, 2007
Laboratory diagnosis of defects of creatine biosynthesis and transport.
Verhoeven NM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Case Series of Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency.
Narayan V et al.
Annals of Indian Academy of Neurology, 0