Article

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

Journal of medical genetics - 1 Jul 2013

van de Kamp J M, Betsalel O T, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald 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, von der 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, 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, Mancini G M, Salomons G S