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Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes
Creatine is synthetized from arginine and glycine. There are two enzymes in the synthesis: l-arginine:glycine amidinotransferase and guanidinoacetate methyltransferase. After the synthesis, it is taken up by high-energy-requiring organs using creatine transporter. Biallelic pathogenic variants in GA...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Turkish Pediatrics Association
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081004/ https://www.ncbi.nlm.nih.gov/pubmed/36856349 http://dx.doi.org/10.5152/TurkArchPediatr.2023.23022 |