Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.
Nasseri Moghaddam Z, Reinhardt EK, Thurm A, Potter BK, Smith M, Graham C, Tiller BH, Baker SA, Bilder DA, Bogar R, Britz J, Cafferty R, Coller DP, DeGrauw TJ, Hall V, Lipshutz GS, Longo N, Mercimek-Andrews S, Miller JS, Pasquali M, Salomons GS, Schulze A, Wheaton CP, Williams KF, Young SP, Li J, Balog S, Selucky T, Stöckler-Ipsiroglu S, Wallis H.
Nasseri Moghaddam Z, et al. Among authors: miller js.
Orphanet J Rare Dis. 2025 Aug 7;20(1):408. doi: 10.1186/s13023-025-03900-3.
Orphanet J Rare Dis. 2025.
PMID: 40775643
Free PMC article.