Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Miller JS, Farmer C, Blair S, Bianconi S, Akshoomoff N, Anselm I, Barshop BA, Becker L, Bennett AE, Berry LN, Berry-Kravis EM, Bruchey A, Byars AW, Cimms T, Cecil KM, Covello M, Cubit LS, Das T, Davis RJ, Drye M, Ficicioglu C, Fulton JB, Goin-Kochel RP, Guthrie W, Hallinan BE, Hannah-Shmouni F, Gustafson KE, Koeberl DD, Longo N, Mamak E, Mercimek-Andrews S, Michalak C, Porter FD, Rahhal S, Rees L, Spiridigliozzi GA, Stone C, Sullivan NR, Sutton VR, Thomas RP, Udhnani M, Waisbren S, Xu M, Zhang L, Brandabur M, Thurm A.
Miller JS, et al.
Pediatr Neurol. 2026 Feb;175:8-18. doi: 10.1016/j.pediatrneurol.2025.10.023. Epub 2025 Oct 30.
Pediatr Neurol. 2026.
PMID: 41260060
Free PMC article.
The use of absolute metrics from neurodevelopmental tests (e.g., person ability scores) allowed for the quantification of slow, but present, skill development....
The use of absolute metrics from neurodevelopmental tests (e.g., person ability scores) allowed for the quantification of slow, but p …