Creatine transporter deficiency: Novel mutations and functional studies

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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Bibliographic Details
Main Authors: O. Ardon, M. Procter, R. Mao, N. Longo, Y.E. Landau, A. Shilon-Hadass, L.V. Gabis, C. Hoffmann, M. Tzadok, G. Heimer, S. Sada, B. Ben-Zeev, Y. Anikster
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
SLC6A8
Creatine transport
Human fibroblasts
HELA cells
Creatine transporter deficiency
Creatine deficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300453

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http://www.sciencedirect.com/science/article/pii/S2214426916300453

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