X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.
Schiaffino MC; Bellini C; Costabello L; Caruso U; Jakobs C; Salomons GS; Bonioli E; Neurogenetics, 2005, vol. 6, issue 3, p 165, ISSN 13646745. ISBN 13646745.

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