Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

V. Valayannopoulos; N. Bakouh; M. Mazzuca; L. Nonnenmacher; L. Hubert; F.L. Makaci; A. Chabli; G.S. Salomons; C. Mellot-Draznieks; E. Brule; P. de Lonlay; H. Toulhoat; A. Munnich; G. Planelles; Y. de Keyzer

doi:10.1007/s10545-012-9495-9

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

V. Valayannopoulos, N. Bakouh, M. Mazzuca, L. Nonnenmacher, L. Hubert, F.L. Makaci, A. Chabli, G.S. Salomons, C. Mellot-Draznieks, E. Brule, P. de Lonlay, H. Toulhoat, A. Munnich, G. Planelles, Y. de Keyzer

Clinical chemistry

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	103-112
Journal	Journal of Inherited Metabolic Disease
Volume	36
Issue number	1
DOIs	https://doi.org/10.1007/s10545-012-9495-9
Publication status	Published - 2013

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10.1007/s10545-012-9495-9

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Valayannopoulos, V., Bakouh, N., Mazzuca, M., Nonnenmacher, L., Hubert, L., Makaci, F. L., Chabli, A., Salomons, G. S., Mellot-Draznieks, C., Brule, E., de Lonlay, P., Toulhoat, H., Munnich, A., Planelles, G., & de Keyzer, Y. (2013). Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome. Journal of Inherited Metabolic Disease, 36(1), 103-112. https://doi.org/10.1007/s10545-012-9495-9

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author = "V. Valayannopoulos and N. Bakouh and M. Mazzuca and L. Nonnenmacher and L. Hubert and F.L. Makaci and A. Chabli and G.S. Salomons and C. Mellot-Draznieks and E. Brule and {de Lonlay}, P. and H. Toulhoat and A. Munnich and G. Planelles and {de Keyzer}, Y.",

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Valayannopoulos, V, Bakouh, N, Mazzuca, M, Nonnenmacher, L, Hubert, L, Makaci, FL, Chabli, A, Salomons, GS, Mellot-Draznieks, C, Brule, E, de Lonlay, P, Toulhoat, H, Munnich, A, Planelles, G & de Keyzer, Y 2013, 'Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome', Journal of Inherited Metabolic Disease, vol. 36, no. 1, pp. 103-112. https://doi.org/10.1007/s10545-012-9495-9

TY - JOUR

T1 - Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

AU - Valayannopoulos, V.

AU - Bakouh, N.

AU - Mazzuca, M.

AU - Nonnenmacher, L.

AU - Hubert, L.

AU - Makaci, F.L.

AU - Chabli, A.

AU - Salomons, G.S.

AU - Mellot-Draznieks, C.

AU - Brule, E.

AU - de Lonlay, P.

AU - Toulhoat, H.

AU - Munnich, A.

AU - Planelles, G.

AU - de Keyzer, Y.

PY - 2013

Y1 - 2013

U2 - 10.1007/s10545-012-9495-9

DO - 10.1007/s10545-012-9495-9

M3 - Article

C2 - 22644605

VL - 36

SP - 103

EP - 112

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 1

ER -