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Page 1
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM, Betsalel OT, 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 MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der 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 O, 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 MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. van de Kamp JM, et al. Among authors: campistol j. J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3. J Med Genet. 2013. PMID: 23644449
Arginine supplementation in four patients with X-linked creatine transporter defect.
Fons C, Sempere A, Arias A, López-Sala A, Póo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch R, Campistol J. Fons C, et al. Among authors: campistol j. J Inherit Metab Dis. 2008 Dec;31(6):724-8. doi: 10.1007/s10545-008-0902-1. Epub 2008 Oct 16. J Inherit Metab Dis. 2008. PMID: 18925426
Creatine transporter deficiency in two adult patients with static encephalopathy.
Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J. Sempere A, et al. Among authors: campistol j. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S91-6. doi: 10.1007/s10545-009-1083-2. Epub 2009 Mar 25. J Inherit Metab Dis. 2009. PMID: 19319661 Review.
Late-onset form of beta-electron transfer flavoprotein deficiency.
Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N. Curcoy A, et al. Among authors: campistol j. Mol Genet Metab. 2003 Apr;78(4):247-9. doi: 10.1016/s1096-7192(03)00024-6. Mol Genet Metab. 2003. PMID: 12706375
831 results