CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

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Summary

Literature (1)

Literature for OMIM 300352: CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

Xenbase Articles:
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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,Toulhoat H,Munnich A,Planelles G,de Keyzer Y,de Lonlay P, 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,Toulhoat H,Munnich A,Planelles G,de Keyzer Y,de Lonlay P, J Inherit Metab Dis. January 1, 2013; 36(1):1573-2665.