Subject Areas on Research
- Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
- Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency.
- Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
- Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.