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

Autor: Joy Yaplito-Lee, Charles E. Schwartz, S Waltz, Katrin Õunap, S Mercimek-Mahmutoglu, Marie-Cécile Nassogne, Luísa Diogo, Hitoshi Osaka, Stephanie Grunewald, Carla Valongo, A Schulze, Marc D'Hooghe, A. Errami, I Poggenburg, Nicola K. Poplawski, F Hofstede, Hanne Meijers-Heijboer, C. Jakobs, Yves Sznajer, Angela Arias, Bridget Wilcken, H Azzouz, Suzanna G.M. Frints, A.P.M. de Brouwer, Gajja S. Salomons, M.S. van der Knaap, Diana Johnson, Tjitske Kleefstra, Antonia Ribes, M. A. Vilaseca, S Schwenger, JM Pinard, Grazia M.S. Mancini, Irina Anselm, S von der Haar, Sarina G. Kant, J.M. van de Kamp, J P Monteiro, Nicola Longo, G Soares, Vassili Valayannopoulos, Petra J. W. Pouwels, Drago Bratkovic, H Van Esch, L Abulhoul, David Cheillan, M Fonseca, Helger G. Yntema, Ofir T. Betsalel, J A Maat-Kievit, S Quijano-Roy, L. Lion-François, Jaime Campistol, Gaelle Pitelet, Paula Garcia, M M C Wamelink, Ania C. Muntau, Ben C.J. Hamel, Arnold Munnich, Omar A. Abdul-Rahman

Publikováno v: 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 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
Journal of Medical Genetics, 50(7), 463-472. BMJ Publishing Group
Journal of Medical Genetics, 50, 7, pp. 463-72
Journal of Medical Genetics, 50(7), 463-472
Journal of medical genetics, 50(7), 463-472. BMJ Publishing Group
Journal of Medical Genetics, 50, 463-72

Item does not contain fulltext BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71463aa9e2781cbf58299186b4ea36f2
https://hdl.handle.net/1887/101696

Characterization of seven novel mutations in seven patients with GAMT deficiency

Autor: C B, Item, S, Mercimek-Mahmutoglu, R, Battini, C, Edlinger-Horvat, C, Stromberger, O, Bodamer, A, Mühl, M A, Vilaseca, H, Korall, S, Stöckler-Ipsiroglu

Publikováno v: Human mutation. 23(5)

Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive error of creatine synthesis characterized by cerebral creatine deficiency, accumulation of guanidinoacetate, mental retardation, epilepsy and extrapyramidal signs. So far,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::13dc580d9cfbaeb9f1d125707974f5e0
https://pubmed.ncbi.nlm.nih.gov/15108290

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