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
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
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
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
Dhar SU et al.
Molecular Genetics and Metabolism, 2009
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
[Cerebral creatine deficiency syndromes].
Malheiro R et al.
Acta Medica Portuguesa, 0
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