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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...
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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2021
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| 主題: | |
| オンライン･アクセス: | 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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