Case report: Clinical and magnetic resonance spectroscopy presentation of a female severely affected with X-linked creatine transporter deficiency()

Creatine transporter deficiency is an X-linked genetic disorder caused by a variant in the SLC6A8 gene located on the X chromosome (Xq28). This condition varies in severity with features often including intellectual disabilities, speech delay, autistic features, attention deficit hyperactivity and g...

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Detalles Bibliográficos
Autores principales: Morey, Katherine, Hallinan, Barbara, Cecil, Kim M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8829519/
https://www.ncbi.nlm.nih.gov/pubmed/35169411
http://dx.doi.org/10.1016/j.radcr.2022.01.053

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8829519/
https://www.ncbi.nlm.nih.gov/pubmed/35169411
http://dx.doi.org/10.1016/j.radcr.2022.01.053

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