Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

S. Mahmutoglu; J.D.T. Ndika; W. Kanhai; T.B. de Villemeur; D. Cheillan; E. Christensen; N. Dorison; V. Hannig; Y.M.C. Hendriks; F.C. Hofstede; L. Lion-Francois; A.M. Lund; H. Mundy; G. Pitelet; M. Raspall-Chaure; J.A. Scott-Schwoerer; K. Szakszon; V. Valayannopoulos; M. Williams; G.S. Salomons

doi:https://doi.org/10.1002/humu.22511

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

S. Mahmutoglu, J.D.T. Ndika, W. Kanhai, T.B. de Villemeur, D. Cheillan, E. Christensen, N. Dorison, V. Hannig, Y.M.C. Hendriks, F.C. Hofstede, L. Lion-Francois, A.M. Lund, H. Mundy, G. Pitelet, M. Raspall-Chaure, J.A. Scott-Schwoerer, K. Szakszon, V. Valayannopoulos, M. Williams, G.S. Salomons

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

38 Citations (Scopus)

Original language	English
Pages (from-to)	462-469
Journal	Human mutation
Volume	35
Issue number	4
DOIs	https://doi.org/10.1002/humu.22511
Publication status	Published - 2014

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https://doi.org/10.1002/humu.22511

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Mahmutoglu, S., Ndika, J. D. T., Kanhai, W., de Villemeur, T. B., Cheillan, D., Christensen, E., Dorison, N., Hannig, V., Hendriks, Y. M. C., Hofstede, F. C., Lion-Francois, L., Lund, A. M., Mundy, H., Pitelet, G., Raspall-Chaure, M., Scott-Schwoerer, J. A., Szakszon, K., Valayannopoulos, V., Williams, M., & Salomons, G. S. (2014). Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene. Human mutation, 35(4), 462-469. https://doi.org/10.1002/humu.22511

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author = "S. Mahmutoglu and J.D.T. Ndika and W. Kanhai and {de Villemeur}, T.B. and D. Cheillan and E. Christensen and N. Dorison and V. Hannig and Y.M.C. Hendriks and F.C. Hofstede and L. Lion-Francois and A.M. Lund and H. Mundy and G. Pitelet and M. Raspall-Chaure and J.A. Scott-Schwoerer and K. Szakszon and V. Valayannopoulos and M. Williams and G.S. Salomons",

year = "2014",

doi = "https://doi.org/10.1002/humu.22511",

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Mahmutoglu, S, Ndika, JDT, Kanhai, W, de Villemeur, TB, Cheillan, D, Christensen, E, Dorison, N, Hannig, V, Hendriks, YMC, Hofstede, FC, Lion-Francois, L, Lund, AM, Mundy, H, Pitelet, G, Raspall-Chaure, M, Scott-Schwoerer, JA, Szakszon, K, Valayannopoulos, V, Williams, M & Salomons, GS 2014, 'Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene', Human mutation, vol. 35, no. 4, pp. 462-469. https://doi.org/10.1002/humu.22511

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T1 - Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

AU - Mahmutoglu, S.

AU - Ndika, J.D.T.

AU - Kanhai, W.

AU - de Villemeur, T.B.

AU - Cheillan, D.

AU - Christensen, E.

AU - Dorison, N.

AU - Hannig, V.

AU - Hendriks, Y.M.C.

AU - Hofstede, F.C.

AU - Lion-Francois, L.

AU - Lund, A.M.

AU - Mundy, H.

AU - Pitelet, G.

AU - Raspall-Chaure, M.

AU - Scott-Schwoerer, J.A.

AU - Szakszon, K.

AU - Valayannopoulos, V.

AU - Williams, M.

AU - Salomons, G.S.

PY - 2014

Y1 - 2014

U2 - https://doi.org/10.1002/humu.22511

DO - https://doi.org/10.1002/humu.22511

M3 - Article

C2 - 24415674

SN - 1059-7794

VL - 35

SP - 462

EP - 469

JO - Human mutation

JF - Human mutation

IS - 4

ER -