Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect-Reference-Cited by-同舟云学术

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

Published:2011-05-10 Issue:1 Volume:35 Page:141-149
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

van de Kamp Jiddeke M.,Pouwels Petra J. W.,Aarsen Femke K.,ten Hoopen Leontine W.,Knol Dirk L.,de Klerk Johannes B.,de Coo Ireneus F.,Huijmans Jan G. M.,Jakobs Cornelis,van der Knaap Marjo S.,Salomons Gajja S.,Mancini Grazia M. S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-011-9345-1

Reference38 articles.

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2. Almeida LS, Salomons GS, Hogenboom F, Jakobs C, Schoffelmeer ANM (2006) Exocytotic release of creatine in rat brain. Synapse 60(2):118–123

3. Anselm IA, Alkuraya FS, Salomons GS et al (2006) X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis 29(1):214–219

4. Anselm IA, Coulter DL, Darras BT (2008) Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology 70(18):1642–1644

5. Bizzi A, Bugiani M, Salomons GS et al (2002) X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol 52(2):227–231

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