Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review

(1) Background: X-linked creatine transporter deficiency (CTD) (OMIM 300036) is a rare group of inherited metabolic disorders characterized by global developmental delay/intellectual disability (GDD/ID), seizures, autistic behavior, and movement disorders. Pathogenic variants in the SLC6A8 gene, loc...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Jiaqing, Xu, Sanqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605349/
https://www.ncbi.nlm.nih.gov/pubmed/37891751
http://dx.doi.org/10.3390/brainsci13101382

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605349/
https://www.ncbi.nlm.nih.gov/pubmed/37891751
http://dx.doi.org/10.3390/brainsci13101382

Ejemplares similares