Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency
建立肌酸转运蛋白缺乏症和胍基乙酸甲基转移酶缺乏症的核心结局指标集
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03900-3
Nasseri Moghaddam, Zahra; Reinhardt, Emily K; Thurm, Audrey; Potter, Beth K; Smith, Maureen; Graham, Celeste; Tiller, Beth H; Baker, Steven A; Bilder, Deborah A; Bogar, Regina; Britz, Jacobus; Cafferty, Rachel; Coller, Daniel P; DeGrauw, Ton J; Hall, Vicky; Lipshutz, Gerald S; Longo, Nicola; Mercimek-Andrews, Saadet; Miller, Judith S; Pasquali, Marzia; Salomons, Gajja S; Schulze, Andreas; Wheaton, Celine P; Williams, Kayla F; Young, Sarah P; Li, Jasmine; Balog, Sofia; Selucky, Theresa; Stöckler-Ipsiroglu, Sylvia; Wallis, Heidi