Associated Papers
Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment.
Portales-Castillo I et al.
Jimd Reports, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Goldstein J et al.
Molecular Genetics and Metabolism, 2024
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
DesRoches CL et al.
Human Mutation, 2016
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
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
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