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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Veröffentlicht in:Mol Genet Metab Rep
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2016
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4932609/
https://ncbi.nlm.nih.gov/pubmed/27408820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.06.005
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