Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

J.M. van de Kamp; O.T. Betsalel; S. Mercimek-Mahmutoglu; L. Abulhoul; S. Grunewald; I. Anselm; H. Azzouz; D. Bratkovic; A. de Brouwer; B. Hamel; T. Kleefstra; H. Yntema; J. Campistol; M.A. Vilaseca; D. Cheillan; M. D'Hooghe; L. Diogo; P. Garcia; C. Valongo; M. Fonseca; S. Frints; B. Wilcken; S. Haar; H.E. Meijers-Heijboer; F. Hofstede; D. Johnson; S.G. Kant; L. Lion-Francois; G. Pitelet; N. Longo; J.A. Maat-Kievit; J.P. Monteiro; A. Munnich; A.C. Muntau; M.C. Nassogne; H. Osaka; K. Ounap; J.M. Pinard; S. Quijano-Roy; I. Poggenburg; N. Poplawski; O.A. Abdul-Rahman; A. Ribes; A. Arias; J. Yaplito-Lee; A. Schulze; C.E. Schwartz; S. Schwenger; G. Soares; Y. Sznajer; V. Valayannopoulos; H. Van Esch; S. Waltz; M.M.C. Wamelink; P.J.W. Pouwels; A. Errami; M.S. van der Knaap; C.A.J.M. Jakobs; G.M. Mancini; G.S. Salomons

doi:10.1136/jmedgenet-2013-101658

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

J.M. van de Kamp, O.T. Betsalel, S. Mercimek-Mahmutoglu, L. Abulhoul, S. Grunewald, I. Anselm, H. Azzouz, D. Bratkovic, A. de Brouwer, B. Hamel, T. Kleefstra, H. Yntema, J. Campistol, M.A. Vilaseca, D. Cheillan, M. D'Hooghe, L. Diogo, P. Garcia, C. Valongo, M. FonsecaS. Frints, B. Wilcken, S. Haar, H.E. Meijers-Heijboer, F. Hofstede, D. Johnson, S.G. Kant, L. Lion-Francois, G. Pitelet, N. Longo, J.A. Maat-Kievit, J.P. Monteiro, A. Munnich, A.C. Muntau, M.C. Nassogne, H. Osaka, K. Ounap, J.M. Pinard, S. Quijano-Roy, I. Poggenburg, N. Poplawski, O.A. Abdul-Rahman, A. Ribes, A. Arias, J. Yaplito-Lee, A. Schulze, C.E. Schwartz, S. Schwenger, G. Soares, Y. Sznajer, V. Valayannopoulos, H. Van Esch, S. Waltz, M.M.C. Wamelink, P.J.W. Pouwels, A. Errami, M.S. van der Knaap, C.A.J.M. Jakobs, G.M. Mancini, G.S. Salomons

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

Original language	Undefined/Unknown
Pages (from-to)	463-472
Journal	Journal of Medical Genetics
Volume	50
Issue number	7
DOIs	https://doi.org/10.1136/jmedgenet-2013-101658
Publication status	Published - 2013

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10.1136/jmedgenet-2013-101658

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van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grunewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., Kleefstra, T., Yntema, H., Campistol, J., Vilaseca, M. A., Cheillan, D., D'Hooghe, M., Diogo, L., Garcia, P., Valongo, C., ... Salomons, G. S. (2013). Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Journal of Medical Genetics, 50(7), 463-472. https://doi.org/10.1136/jmedgenet-2013-101658

van de Kamp, J.M. ; Betsalel, O.T. ; Mercimek-Mahmutoglu, S. ; Abulhoul, L. ; Grunewald, S. ; Anselm, I. ; Azzouz, H. ; Bratkovic, D. ; de Brouwer, A. ; Hamel, B. ; Kleefstra, T. ; Yntema, H. ; Campistol, J. ; Vilaseca, M.A. ; Cheillan, D. ; D'Hooghe, M. ; Diogo, L. ; Garcia, P. ; Valongo, C. ; Fonseca, M. ; Frints, S. ; Wilcken, B. ; Haar, S. ; Meijers-Heijboer, H.E. ; Hofstede, F. ; Johnson, D. ; Kant, S.G. ; Lion-Francois, L. ; Pitelet, G. ; Longo, N. ; Maat-Kievit, J.A. ; Monteiro, J.P. ; Munnich, A. ; Muntau, A.C. ; Nassogne, M.C. ; Osaka, H. ; Ounap, K. ; Pinard, J.M. ; Quijano-Roy, S. ; Poggenburg, I. ; Poplawski, N. ; Abdul-Rahman, O.A. ; Ribes, A. ; Arias, A. ; Yaplito-Lee, J. ; Schulze, A. ; Schwartz, C.E. ; Schwenger, S. ; Soares, G. ; Sznajer, Y. ; Valayannopoulos, V. ; Van Esch, H. ; Waltz, S. ; Wamelink, M.M.C. ; Pouwels, P.J.W. ; Errami, A. ; van der Knaap, M.S. ; Jakobs, C.A.J.M. ; Mancini, G.M. ; Salomons, G.S. / Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. In: Journal of Medical Genetics. 2013 ; Vol. 50, No. 7. pp. 463-472.

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author = "{van de Kamp}, J.M. and O.T. Betsalel and S. Mercimek-Mahmutoglu and L. Abulhoul and S. Grunewald and I. Anselm and H. Azzouz and D. Bratkovic and {de Brouwer}, A. and B. Hamel and T. Kleefstra and H. Yntema and J. Campistol and M.A. Vilaseca and D. Cheillan and M. D'Hooghe and L. Diogo and P. Garcia and C. Valongo and M. Fonseca and S. Frints and B. Wilcken and S. Haar and H.E. Meijers-Heijboer and F. Hofstede and D. Johnson and S.G. Kant and L. Lion-Francois and G. Pitelet and N. Longo and J.A. Maat-Kievit and J.P. Monteiro and A. Munnich and A.C. Muntau and M.C. Nassogne and H. Osaka and K. Ounap and J.M. Pinard and S. Quijano-Roy and I. Poggenburg and N. Poplawski and O.A. Abdul-Rahman and A. Ribes and A. Arias and J. Yaplito-Lee and A. Schulze and C.E. Schwartz and S. Schwenger and G. Soares and Y. Sznajer and V. Valayannopoulos and {Van Esch}, H. and S. Waltz and M.M.C. Wamelink and P.J.W. Pouwels and A. Errami and {van der Knaap}, M.S. and C.A.J.M. Jakobs and G.M. Mancini and G.S. Salomons",

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van de Kamp, JM, Betsalel, OT, Mercimek-Mahmutoglu, S, Abulhoul, L, Grunewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, MA, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, Haar, S, Meijers-Heijboer, HE, Hofstede, F, Johnson, D, Kant, SG, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, JA, Monteiro, JP, Munnich, A, Muntau, AC, Nassogne, MC, Osaka, H, Ounap, K, Pinard, JM, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, OA, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, CE, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, MMC , Pouwels, PJW, Errami, A, van der Knaap, MS , Jakobs, CAJM, Mancini, GM & Salomons, GS 2013, 'Phenotype and genotype in 101 males with X-linked creatine transporter deficiency', Journal of Medical Genetics, vol. 50, no. 7, pp. 463-472. https://doi.org/10.1136/jmedgenet-2013-101658

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. / van de Kamp, J.M.; Betsalel, O.T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Grunewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.; Hamel, B.; Kleefstra, T.; Yntema, H.; Campistol, J.; Vilaseca, M.A.; Cheillan, D.; D'Hooghe, M.; Diogo, L.; Garcia, P.; Valongo, C.; Fonseca, M.; Frints, S.; Wilcken, B.; Haar, S.; Meijers-Heijboer, H.E.; Hofstede, F.; Johnson, D.; Kant, S.G.; Lion-Francois, L.; Pitelet, G.; Longo, N.; Maat-Kievit, J.A.; Monteiro, J.P.; Munnich, A.; Muntau, A.C.; Nassogne, M.C.; Osaka, H.; Ounap, K.; Pinard, J.M.; Quijano-Roy, S.; Poggenburg, I.; Poplawski, N.; Abdul-Rahman, O.A.; Ribes, A.; Arias, A.; Yaplito-Lee, J.; Schulze, A.; Schwartz, C.E.; Schwenger, S.; Soares, G.; Sznajer, Y.; Valayannopoulos, V.; Van Esch, H.; Waltz, S.; Wamelink, M.M.C.; Pouwels, P.J.W.; Errami, A.; van der Knaap, M.S.; Jakobs, C.A.J.M.; Mancini, G.M.; Salomons, G.S.

In: Journal of Medical Genetics, Vol. 50, No. 7, 2013, p. 463-472.

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

TY - JOUR

T1 - Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

AU - van de Kamp, J.M.

AU - Betsalel, O.T.

AU - Mercimek-Mahmutoglu, S.

AU - Abulhoul, L.

AU - Grunewald, S.

AU - Anselm, I.

AU - Azzouz, H.

AU - Bratkovic, D.

AU - de Brouwer, A.

AU - Hamel, B.

AU - Kleefstra, T.

AU - Yntema, H.

AU - Campistol, J.

AU - Vilaseca, M.A.

AU - Cheillan, D.

AU - D'Hooghe, M.

AU - Diogo, L.

AU - Garcia, P.

AU - Valongo, C.

AU - Fonseca, M.

AU - Frints, S.

AU - Wilcken, B.

AU - Haar, S.

AU - Meijers-Heijboer, H.E.

AU - Hofstede, F.

AU - Johnson, D.

AU - Kant, S.G.

AU - Lion-Francois, L.

AU - Pitelet, G.

AU - Longo, N.

AU - Maat-Kievit, J.A.

AU - Monteiro, J.P.

AU - Munnich, A.

AU - Muntau, A.C.

AU - Nassogne, M.C.

AU - Osaka, H.

AU - Ounap, K.

AU - Pinard, J.M.

AU - Quijano-Roy, S.

AU - Poggenburg, I.

AU - Poplawski, N.

AU - Abdul-Rahman, O.A.

AU - Ribes, A.

AU - Arias, A.

AU - Yaplito-Lee, J.

AU - Schulze, A.

AU - Schwartz, C.E.

AU - Schwenger, S.

AU - Soares, G.

AU - Sznajer, Y.

AU - Valayannopoulos, V.

AU - Van Esch, H.

AU - Waltz, S.

AU - Wamelink, M.M.C.

AU - Pouwels, P.J.W.

AU - Errami, A.

AU - van der Knaap, M.S.

AU - Jakobs, C.A.J.M.

AU - Mancini, G.M.

AU - Salomons, G.S.

PY - 2013

Y1 - 2013

U2 - 10.1136/jmedgenet-2013-101658

DO - 10.1136/jmedgenet-2013-101658

M3 - Article

C2 - 23644449

VL - 50

SP - 463

EP - 472

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 7

ER -