Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

BACKGROUND: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 and total tau are abnormal in Alzheimer disease (AD),...

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Detalles Bibliográficos
Autores principales: Rahhal, Samar, Farmer, Cristan, Thurm, Audrey, Wassif, Christopher A., Cawley, Niamh X., Perreault, John, Dang Do, An, Bianconi, Simona, Hannah-Shmouni, Fady, Guthrie, Whitney, Cubit, Laura S., Miller, Judith S., Sutton, V. Reid, Koeberl, Dwight, Porter, Forbes D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10470314/
https://www.ncbi.nlm.nih.gov/pubmed/37662495
http://dx.doi.org/10.1016/j.ymgmr.2023.101001

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