Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases-Reference-Cited by-同舟云学术

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Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases

Published:2014-08 Issue:4 Volume:112 Page:259-274
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Dunbar Mary,Jaggumantri Sravan,Sargent Michael,Stockler-Ipsiroglu Sylvia,van Karnebeek Clara D.M.

Funder

British Columbia's Children's Hospital Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference32 articles.

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

2. Creatine and creatinine metabolism;Wyss;Physiol. Rev.,2000

3. High prevalence of SLC6A8 deficiency in X-linked mental retardation;Rosenberg;Am. J. Hum. Genet.,2004

4. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation;Lion-François;Neurology,2006

5. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency;van de Kamp;J. Med. Genet.,2013

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