Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency.
Lee A et al.
Jimd Reports, 2025
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
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
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
Select a paper to view details