Arginine supplementation in four patients with X-linked creatine transporter defect-Reference-Cited by-同舟云学术

Arginine supplementation in four patients with X-linked creatine transporter defect

Published:2008-10-16 Issue:6 Volume:31 Page:724-728
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Fons C.,Sempere A.,Arias A.,López-Sala A.,Póo P.,Pineda M.,Mas A.,Vilaseca M. A.,Salomons G. S.,Ribes A.,Artuch R.,Campistol J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-008-0902-1

Reference21 articles.

1. Almeida LS, Salomons GS, Hogenboom F, Jackobs C, Schoffelmeer AN (2006) Exocytotic release of creatine in rat brain. Synapse 60: 118–123. doi: 10.1002/syn.20280 .

2. Arias A, Ormazabal A, Moreno J, et al (2006) Methods for the diagnosis of creatine deficiency syndromes: a comparative study. J Neurosci Methods 156(1–2): 305–309.

3. Braissant O, Henry H (2008) AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. J Inherit Metab Dis 31: 230–239. doi: 10.1007/s10545-008-0826-9 .

4. Braissant O, Henry H, Loup M, Eilers B, Bachmann C (2001) Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridation study. Brain Res Mol Brain Res 86: 193–201. doi: 10.1016/S0169-328X(00)00269-2 .

5. Campistol J, Arias-Dimas A, Poo P, et al (2007) Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease. Rev Neurol 44(6): 343–347.

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