Associated Papers
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.
Luiza Benevides M et al.
Epilepsy & Behavior : E&b, 2024
Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.
Sun W et al.
Translational Pediatrics, 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
Adult GAMT deficiency: A literature review and report of two siblings.
Modi BP et al.
Molecular Genetics and Metabolism Reports, 2021
First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child.
Sun W et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
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
[Advances in studies on cerebral creatine deficiency syndrome].
Sun WH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
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
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
Lack of creatine in muscle and brain in an adult with GAMT deficiency.
Schulze A et al.
Annals of Neurology, 2003
Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.
Carducci C et al.
Clinical Chemistry, 2002
Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.
Item CB et al.
Clinical Chemistry, 2002
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
Item CB et al.
Molecular Genetics and Metabolism, 0