Associated Papers
Epilepsy expands the phenotype of L-arginine:glycine amidinotransferase deficiency.
Ferretti A et al.
Epilepsia, 2025
Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study.
Fortunato F et al.
Epilepsia, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report.
Alessandrì MG et al.
Bmc Pregnancy and Childbirth, 2020
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.
Battini R et al.
Orphanet Journal of Rare Diseases, 2017
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
DesRoches CL et al.
Human Mutation, 2016
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Stockler-Ipsiroglu S et al.
Molecular Genetics and Metabolism, 2015
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M et al.
Biochimie, 2015
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
Nouioua S et al.
Neuromuscular Disorders : Nmd, 2013
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
Ndika JD et al.
Molecular Genetics and Metabolism, 2012
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
Battini R et al.
The Journal of Pediatrics, 2006
Laboratory diagnosis of defects of creatine biosynthesis and transport.
Verhoeven NM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.
Battini R et al.
Molecular Genetics and Metabolism, 2002
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.
Edvardson S et al.
Molecular Genetics and Metabolism, 0
[Cerebral creatine deficiency syndromes].
Malheiro R et al.
Acta Medica Portuguesa, 0