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Oxidative Phosphorylation in Creatine Transporter Deficiency
X-linked creatine transporter deficiency (CTD) is one of the three types of the cerebral creatine deficiency disorders. CTD arises from pathogenic variants in the X-linked gene SLC6A8. We report the first phosphorus ((31)P) MRS study of patients with CTD, where both phosphocreatine and total creatin...
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| Publicado no: | NMR Biomed |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7722185/ https://ncbi.nlm.nih.gov/pubmed/32990357 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/nbm.4419 |
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