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; 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

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.

Affiliation

van de Kamp JM; Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, Amsterdam 1007MB, The Netherlands. jm.vandekamp@vumc.nl

J Med Genet ; 50(7): 463-72, 2013 Jul.

Article in En | MEDLINE | ID: mdl-23644449

Subject(s)

Brain Diseases, Metabolic, Inborn/genetics; Creatine/deficiency; Creatine/metabolism; Mental Retardation, X-Linked/genetics; Nerve Tissue Proteins/genetics; Plasma Membrane Neurotransmitter Transport Proteins/deficiency; Adult; Child; Creatine/genetics; Genes, X-Linked; Genetic Testing; Genotype; Humans; Male; Phenotype; Plasma Membrane Neurotransmitter Transport Proteins/genetics; Retrospective Studies

Key words

Diagnosis; Intellectual disability; Prognosis; SLC6A8; genetic counselling

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Full text: 1 Database: MEDLINE Main subject: Creatine / Brain Diseases, Metabolic, Inborn / Mental Retardation, X-Linked / Plasma Membrane Neurotransmitter Transport Proteins / Nerve Tissue Proteins Type of study: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Humans / Male Language: En Year: 2013 Type: Article

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