Creatine transporter deficiency: Novel mutations and functional studies

X-linked cerebral creatine deficiency (MIM 300036) is caused by deficiency of the creatine transporter encoded by the SLC6A8 gene. Here we report three patients with this condition from Israel. These unrelated patients were evaluated for global developmental delays and language apraxia. Borderline m...

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Detalles Bibliográficos
Autores principales: Ardon, O., Procter, M., Mao, R., Longo, N., Landau, Y.E., Shilon-Hadass, A., Gabis, L.V., Hoffmann, C., Tzadok, M., Heimer, G., Sada, S., Ben-Zeev, B., Anikster, Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932609/
https://www.ncbi.nlm.nih.gov/pubmed/27408820
http://dx.doi.org/10.1016/j.ymgmr.2016.06.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932609/
https://www.ncbi.nlm.nih.gov/pubmed/27408820
http://dx.doi.org/10.1016/j.ymgmr.2016.06.005

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