Treatment outcome of creatine transporter deficiency: international retrospective cohort study-Reference-Cited by-同舟云学术

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

Published:2018-02-12 Issue:3 Volume:33 Page:875-884
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Bruun Theodora U. J.,Sidky Sarah,Bandeira Anabela O.,Debray Francoise-Guillaume,Ficicioglu Can,Goldstein Jennifer,Joost Kairit,Koeberl Dwight D.,Luísa Diogo,Nassogne Marie-Cecile,O’Sullivan Siobhan,Õunap Katrin,Schulze Andreas,van Maldergem Lionel,Salomons Gajja S.,Mercimek-Andrews Saadet

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-018-0197-3/fulltext.html

Reference15 articles.

1. Betsalel OT, Pop A, Rosenberg EH, Fernandez-Ojeda M, Creatine Transporter Research, Group, Jakobs C, Salomons GS (2012) Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. Mol Genet Metab 105(4):596–601. https://doi.org/10.1016/j.ymgme.2011.12.022

2. Cecil KM, Salomons GS, Ball WS Jr et al (2001) Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 49(3):401–404. https://doi.org/10.1002/ana.79

3. Chilosi A, Leuzzi V, Battini R, Tosetti M, Ferretti G, Comparini A, Casarano M, Moretti E, Alessandrì MG, Bianchi MC, Cioni G (2008) Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase 14(2):151–161. https://doi.org/10.1080/13554790802060821

4. Fons C, Sempere A, Arias A, López-Sala A, Póo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch R, Campistol J (2008) Arginine supplementation in four patients with X-linked creatine transporter defect. J Inherit Metab Dis 31(6):724–728. https://doi.org/10.1007/s10545-008-0902-1

5. Garcia P, Rodrigues F, Valongo C, Salomons GS, Diogo L (2012) Phenotypic variability in a Portuguese family with x-linked creatine transport deficiency. Pediatr Neurol 46(1):39–41. https://doi.org/10.1016/j.pediatrneurol.2011.10.005

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