Publications

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency

Nasseri Moghaddam, Z., Reinhardt, E. K., Thurm, A., Potter, B. K., Smith, M., Graham, C., Tiller, B. H., Baker, S. A., Bilder, D. A., Bogar, R., Britz, J., Cafferty, R., Coller, D. P., DeGrauw, T. J., Hall, V., Lipshutz, G. S., Longo, N., Mercimek-Andrews, S., Miller, J. S., Pasquali, M., … Wallis, H. (2025). Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency. Orphanet journal of rare diseases, 20(1), 408. https://doi.org/10.1186/s13023-025-03900-3