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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)103-112
JournalJournal of Inherited Metabolic Disease
Volume36
Issue number1
DOIs
Publication statusPublished - 2013

Cite this

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. / Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome. In: Journal of Inherited Metabolic Disease. 2013 ; Vol. 36, No. 1. pp. 103-112.
@article{9f2b05bffc6a41058c1f008d02743207,
title = "Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome",
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.",
year = "2013",
doi = "10.1007/s10545-012-9495-9",
language = "Undefined/Unknown",
volume = "36",
pages = "103--112",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "1",

}

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

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, F.L.; Chabli, A.; Salomons, G.S.; Mellot-Draznieks, C.; Brule, E.; de Lonlay, P.; Toulhoat, H.; Munnich, A.; Planelles, G.; de Keyzer, Y.

In: Journal of Inherited Metabolic Disease, Vol. 36, No. 1, 2013, p. 103-112.

Research output: Contribution to journalArticleAcademicpeer-review

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

VL - 36

SP - 103

EP - 112

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 1

ER -