Current and potential new treatment strategies for creatine deficiency syndromes

Creatine deficiency syndromes (CDS) are inherited metabolic disorders caused by mutations in GATM, GAMT and SLC6A8 and mainly affect central nervous system (CNS). AGAT- and GAMT-deficient patients lack the functional brain endogenous creatine (Cr) synthesis pathway but express the Cr transporter SLC...

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Main Authors: Gabriella Fernandes‐Pires, Olivier Braissant
格式: Revisão
语言:英语
出版: 2021
在线阅读:https://doi.org/10.1016/j.ymgme.2021.12.005
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