Funder
Stichting Terre - Rett Syndroom Fonds
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Reference128 articles.
1. Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H. Rett syndrome in Australia: a review of the epidemiology. J Pediatr. 2006;148(3):347–52.
2. Comission E. Useful Information on Rare Diseases from an EU Perspective. 2009
3. Rett A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr. 1966;116(37):723–6.
4. Halbach NS, Smeets EE, Bierau J, Keularts IM, Plasqui G, Julu PO, Engerstrom IW, Bakker JA, Curfs LM. Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome. JIMD Rep. 2012;3:117–24.
5. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185–8.
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