Clinical Characteristics of Creatine Transporter Deficiency (CTD): Final Results of the Vigilan Observational Study (P8-8.002)

Melanie Brandabur,Simona Bianconi,Irina Anselm,Bruce A. Barshop,Elizabeth Berry-Kravis,Dwight D. Koeberl,Kim M. Cecil,Fady Hannah-Shmouni,Nicola Longo,Saadet Mercimek-Andrews,Forbes D. Porter,Samar Rahhal,Reid Sutton,Susan Blair,Tricia Cimms,Lin Zhang, Cristan Farmer PhD,Audrey Thurm,Judith Miller

Neurology（2024）

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摘要

To enhance understanding of symptoms and developmental course of people living with CTD, contribute to development of therapeutic intervention programs, and identify potential study endpoints relevant to CTD.

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