This is a collection of links on the Creatine Transport Defect
Linkliste zum Kreatintransporterdefekt
Viele der Texte zum Thema sind leider nur in Englisch verfügbar
- JM van de Kampa,GMS Mancinib, PJW Pouwelsc,OT Betsaleld, JMvanDoorend, I de Koninge,ME Steenwegf, C Jakobsd,MS van der Knaapfand GS Salomons:Clinical features and Y-inactivation in females heterozygous for creatine transporter defect
- Almeida, L., Rosenberg, E. Verhoeven, N. Jakobs, C., Salomons, G. , Are Cerebral Creatine Deficiency Syndroms on the Radar Screen?
http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Salomons.pdf - Matthew R. Skelton, Tori L. Schaefer, Devon L. Graham, Ton J. deGrauw, Joseph F. Clark, Michael T. Williams, Charles V. Vorhees: Creatine Transporter (CrT; Slc6a8) Knockout Mice as a Model of Human CrT Deficiency http://www.plosone.org/article/info:doi/10.1371/journal.pone.0016187;jsessionid=C0B0806E3FE3D12DF307186566F3E4DF.ambra01
- Sylvia Stöckler-Ipsiroglu: Creatine Deficiency Syndromes clinical presentation http://www.erndim.unibas.ch/Meeting_Rep/08_sept_lisbon/menu_lisbon_08.htm
- Clinical features and X-inactivation in females heterozygous for creatine transporter defect
http://www.ncbi.nlm.nih.gov/pubmed/20528887?dopt=AbstractPlus - PIKfyve in the SGK1 Mediated Regulation of the Creatine Transporter SLC6A8
http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=000110433 - Kreatinmangelsyndrome
http://www.springerlink.com/content/h37tx70213gr6212/ - X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndromehttp://www.cell.com/AJHG/retrieve/pii/S000292970761060X
Blogs /Facbook über Kreatin-Transporter Defekt, GAMT, AGAT
Blogs / Facebook on Creatine Transport Deficiency, GAMT, AGAT
- Kreatin Transporter Defekt / Creatine Transporter Deficiency
http://creatineboy.blogspot.com
- GAMT
http://gamtsupport.blogspot.com/ - All creatine diseases / Alle Kreatindefekte
http://www.facebook.com/#!/home.php?sk=group_127389967322193.
