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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Pubblicato in:NMR Biomed
Autori principali: Li, Shizhe, Bianconi, Simona, van der Veen, Jan Willem, Do, An Dang, Stolinski, JoEllyn, Cecil, Kim M., Hannah-Shmouni, Fady, Porter, Forbes D., Shen, Jun
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online: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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