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

By afschroeder • August 8, 2025

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. Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency. Orphanet J Rare Dis. 2025 Aug 7;20(1):408. doi: 10.1186/s13023-025-03900-3. PMID: 40775643.

Tags: Core outcome set (COS), Creatine transporter deficiency, Endocrinology, Guanidinoacetate methyltransferase deficiency, Patient focused drug development. Patient-centered research, Publications, rare disease

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