Treatment outcome of 22 patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
European Journal of Paediatric Neurology Mar 05, 2018
Khaikin Y, et al. - An inquiry was set up with regard to the therapeutic outcomes of individuals with guanidinoacetate methyltransferase deficiency. Data did not display any phenotype-genotype correlation. For the improvement of phenotype, creatine and ornithine and/or arginine- or protein-restricted diet were discovered to be the most useful treatment.
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