Creatine transporter deficiency: Novel mutations and functional studies

Author:

Ardon O.,Procter M.,Mao R.,Longo N.ORCID,Landau Y.E.,Shilon-Hadass A.,Gabis L.V.,Hoffmann C.,Tzadok M.,Heimer G.,Sada S.,Ben-Zeev B.,Anikster Y.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference34 articles.

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3. Creatine: endogenous metabolite, dietary, and therapeutic supplement;Brosnan;Annu. Rev. Nutr.,2007

4. Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment;Leuzzi;J. Child Neurol.,2002

5. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology;Stockler;Subcell. Biochem.,2007

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