Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency

BACKGROUND: Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene. Previous treatment with creatine supplementation, either alone or in combination with creatine precursors (arginine or glycine), has bee...

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Detalles Bibliográficos
Autores principales: Shi, Kaili, Zhao, Huimin, Xu, Shuming, Han, Hong, Li, Wenjuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123749/
https://www.ncbi.nlm.nih.gov/pubmed/33656256
http://dx.doi.org/10.1002/mgg3.1640

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123749/
https://www.ncbi.nlm.nih.gov/pubmed/33656256
http://dx.doi.org/10.1002/mgg3.1640

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