Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in theGAMTGene

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

(2013) Areeg H. El-Gharbawy et al.   MOLECULAR GENETICS AND METABOLISM

Evidence-Based Treatment of Guanidinoacetate Methyltransferase (GAMT) Deficiency

(2013) Krista S. Viau et al.   MOLECULAR GENETICS AND METABOLISM

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

(2013) Matthew S. Comeaux et al.   MOLECULAR GENETICS AND METABOLISM

Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease

(2012) S. Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

(2012) David Cheillan et al.   Orphanet Journal of Rare Diseases

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

(2011) Saadet Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language

(2009) DECLAN J O’ROURKE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT

(2009) Ángela Sempere et al.   MEDICINA CLINICA

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids

(2009) Udo F. H. Engelke et al.   NMR IN BIOMEDICINE

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

(2008) S.U. Dhar et al.   MOLECULAR GENETICS AND METABOLISM