Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities

Creatine deficiency disorders are inborn errors of creatine metabolism, an energy homeostasis molecule. One of these, guanidinoacetate N-methyltransferase (GAMT) deficiency, has clinical characteristics that include features of autism, self-mutilation, intellectual disability, and seizures, with app...

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Detalles Bibliográficos
Autores principales: Khoja, Suhail, Lambert, Jenna, Nitzahn, Matthew, Eliav, Adam, Zhang, YuChen, Tamboline, Mikayla, Le, Colleen T., Nasser, Eram, Li, Yunfeng, Patel, Puja, Zhuravka, Irina, Lueptow, Lindsay M., Tkachyova, Ilona, Xu, Shili, Nissim, Itzhak, Schulze, Andreas, Lipshutz, Gerald S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9051621/
https://www.ncbi.nlm.nih.gov/pubmed/35505663
http://dx.doi.org/10.1016/j.omtm.2022.03.015

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