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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Shi, Kaili, Zhao, Huimin, Xu, Shuming, Han, Hong, Li, Wenjuan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2021
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8123749/
https://ncbi.nlm.nih.gov/pubmed/33656256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1640
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