Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report

Guanidinoacetate methyltransferase (GAMT) deficiency, also known as cerebral creatine deficiency syndrome type 2 (CCDS2), is an uncommon disease caused by an innate genetic defect in the metabolic pathway of creatine inherited in an autosomal recessive manner. It is a rare cause of neurological regr...

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Detalles Bibliográficos
Autores principales: Alhomsi, Dima, Abdalsalam, Dania, Sulaiman, Rama, Bakleh, Sameer, Alasmar, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205335/
https://www.ncbi.nlm.nih.gov/pubmed/37228909
http://dx.doi.org/10.1097/MS9.0000000000000385

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205335/
https://www.ncbi.nlm.nih.gov/pubmed/37228909
http://dx.doi.org/10.1097/MS9.0000000000000385

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