X-gebonden mentale retardatie door creatine transporter defect

2006 ◽  
Vol 74 (5) ◽  
pp. 201-207
Author(s):  
S. W. K. de Kort ◽  
S. A. de Man ◽  
A. J. M. Hoogeboom ◽  
P. J. W. Pouwels ◽  
M. S. van der Knaap ◽  
...  
Keyword(s):  
Creatine Transporter ◽  
Mentale Retardatie

Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

2001 ◽  
Vol 49 (3) ◽  
pp. 401-404 ◽  
Author(s):  
Kim M. Cecil ◽  
Gajja S. Salomons ◽  
William S. Ball ◽  
Brenda Wong ◽  
Gail Chuck ◽  
...  
Keyword(s):  
Elevated Serum ◽  
Creatine Transporter ◽  
Creatine Deficiency ◽  
Serum And Urine

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts

2018 ◽  
Vol 123 (4) ◽  
pp. 463-471
Author(s):  
Marie Joncquel-Chevalier Curt ◽  
Marie-Adélaïde Bout ◽  
Monique Fontaine ◽  
Isabelle Kim ◽  
Guillemette Huet ◽  
...  
Keyword(s):  
Functional Assessment ◽  
Creatine Transporter

Creatine Transporter Immunolocalization in Aged Human and Detached Retinas

2012 ◽  
Vol 53 (4) ◽  
pp. 1936 ◽  
Author(s):  
Clairton F. de Souza ◽  
Michael Kalloniatis ◽  
David L. Christie ◽  
Philip J. Polkinghorne ◽  
Charles N. J. McGhee ◽  
...  
Keyword(s):  
Creatine Transporter

The clinical syndrome of creatine transporter deficiency

2003 ◽  
pp. 45-48 ◽  
Author(s):  
Ton J. deGrauw ◽  
Kim M. Cecil ◽  
Anna W. Byars ◽  
Gajja S. Salomons ◽  
William S. Ball ◽  
...  
Keyword(s):  
Clinical Syndrome ◽  
Creatine Transporter ◽  
Creatine Transporter Deficiency ◽  
Transporter Deficiency
Sign in / Sign up

Export Citation Format

Share Document