cerebral creatine deficiency syndrome 1

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Summary

Literature (1)

Literature for DOID 0050800: cerebral creatine deficiency syndrome 1

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

:
(

Denotes literature images)

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome., Valayannopoulos V,Bakouh N,Mazzuca M,Nonnenmacher L,Hubert L,Makaci FL,Chabli A,Salomons GS,Mellot-Draznieks C,Brulé E,de Lonlay P,Toulhoat H,Munnich A,Planelles G,de Keyzer Y, J Inherit Metab Dis. January 1, 2013; 36(1):1573-2665.

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome., Valayannopoulos V,Bakouh N,Mazzuca M,Nonnenmacher L,Hubert L,Makaci FL,Chabli A,Salomons GS,Mellot-Draznieks C,Brulé E,de Lonlay P,Toulhoat H,Munnich A,Planelles G,de Keyzer Y, J Inherit Metab Dis. January 1, 2013; 36(1):1573-2665.