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: | , |
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| Formato: | Revisão |
| Idioma: | inglés |
| Publicado: |
2021
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| Acceso en liña: | https://doi.org/10.1016/j.ymgme.2021.12.005 |
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