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...

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Detalles Bibliográficos
Autores principales: Mulik, Crystal, Mercimek-Andrews, Saadet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Turkish Pediatrics Association 2023
Materias:
Review
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

Internet

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

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