Guanidinoacetate N-methyltransferase deficiency: Case report and brief review of the literature

Guanidinoacetate N-methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder characterized by a decrease in creatine synthesis, resulting in cerebral creatine deficiency syndrome (CCDS). GAMT deficiency is caused by mutations in the GAMT gene located on chromosome 19, which impairs...

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Detalles Bibliográficos
Autores principales: Libell, Joshua L., Lakhani, Dhairya A., Balar, Aneri B., Khan, Musharaf, Carpenter, Jeffrey S., Joseph, Joe T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550807/
https://www.ncbi.nlm.nih.gov/pubmed/37808418
http://dx.doi.org/10.1016/j.radcr.2023.09.026

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