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, 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
Published in Journal of medical genetics (01.07.2013)
Published in Journal of medical genetics (01.07.2013)
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Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
Schulze, A, Hoffmann, G F, Bachert, P, Kirsch, S, Salomons, G S, Verhoeven, N M, Mayatepek, E
Published in Neurology (22.08.2006)
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Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
Jansen, E. E., Vogel, K. R., Salomons, G. S., Pearl, P. L., Roullet, J.-B., Gibson, K. M.
Published in Journal of inherited metabolic disease (01.11.2016)
Published in Journal of inherited metabolic disease (01.11.2016)
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Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
Vogel, K.R., Ainslie, G.R., Jansen, E.E.W., Salomons, G.S., Gibson, K.M.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2017)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2017)
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Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord
van der Knaap, M S, Ramesh, V, Schiffmann, R, Blaser, S, Kyllerman, M, Gholkar, A, Ellison, D W, van der Voorn, J P, van Dooren, S J M, Jakobs, C, Barkhof, F, Salomons, G S
Published in Neurology (28.02.2006)
Published in Neurology (28.02.2006)
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Clinical features and X-inactivation in females heterozygous for creatine transporter defect
van de Kamp, JM, Mancini, GMS, Pouwels, PJW, Betsalel, OT, van Dooren, SJM, de Koning, I, Steenweg, ME, Jakobs, C, van der Knaap, MS, Salomons, GS
Published in Clinical genetics (01.03.2011)
Published in Clinical genetics (01.03.2011)
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GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis
Mercimek-Mahmutoglu, S, Stoeckler-Ipsiroglu, S, Adami, A, Appleton, R, Araújo, H Caldeira, Duran, M, Ensenauer, R, Fernandez-Alvarez, E, Garcia, P, Grolik, C, Item, C B, Leuzzi, V, Marquardt, I, Mühl, A, Saelke-Kellermann, R A, Salomons, G S, Schulze, A, Surtees, R, van der Knaap, M S, Vasconcelos, R, Verhoeven, N M, Vilarinho, L, Wilichowski, E, Jakobs, C
Published in Neurology (08.08.2006)
Published in Neurology (08.08.2006)
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A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene
Mercimek-Mahmutoglu, S., Pop, A., Kanhai, W., Fernandez Ojeda, M., Holwerda, U., Smith, D., Loeber, J.G., Schielen, P.C.J.I., Salomons, G.S.
Published in Gene (01.01.2016)
Published in Gene (01.01.2016)
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High frequency of creatine deficiency syndromes in patients with unexplained mental retardation
Lion-François, L, Cheillan, D, Pitelet, G, Acquaviva-Bourdain, C, Bussy, G, Cotton, F, Guibaud, L, Gérard, D, Rivier, C, Vianey-Saban, C, Jakobs, C, Salomons, G S, des Portes, V
Published in Neurology (14.11.2006)
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Frequent reconstitution of IDH2(R140Q) mutant clonal multilineage hematopoiesis following chemotherapy for acute myeloid leukemia
Wiseman, D H, Williams, E L, Wilks, D P, Sun Leong, H, Somerville, T D D, Dennis, M W, Struys, E A, Bakkali, A, Salomons, G S, Somervaille, T C P
Published in Leukemia (01.09.2016)
Published in Leukemia (01.09.2016)
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Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1
van de Kamp, J.M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin-Roque, J., Osaka, H., van Dooren, S.J.M., Mancini, G.M., Steinberg, S.J., Salomons, G.S.
Published in Clinical genetics (01.02.2015)
Published in Clinical genetics (01.02.2015)
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Direct comparison of quantitative digital PCR and 2-hydroxyglutarate enantiomeric ratio for IDH mutant allele frequency assessment in myeloid malignancy
Wiseman, D H, Struys, E A, Wilks, D P, Clark, C I, Dennis, M W, Jansen, E E W, Salomons, G S, Somervaille, T C P
Published in Leukemia (01.12.2015)
Published in Leukemia (01.12.2015)
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Creatine deficiency syndrome. A treatable myopathy due to arginine–glycine amidinotransferase (AGAT) deficiency
Nouioua, S, Cheillan, D, Zaouidi, S, Salomons, G.S, Amedjout, N, Kessaci, F, Boulahdour, N, Hamadouche, T, Tazir, M
Published in Neuromuscular disorders : NMD (01.08.2013)
Published in Neuromuscular disorders : NMD (01.08.2013)
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X‐linked creatine transporter defect: An overview
Salomons, G. S., Van Dooren, S. J. M., Verhoeven, N. M., Marsden, D., Schwartz, C., Cecil, K. M., DeGrauw, T. J., Jakobs, C.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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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, M. A, Salomons, G. S, Ribes, A, Artuch, R, Campistol, J
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients
Williams, M, Valayannopoulos, V, Altassan, R, Chung, W K, Heijboer, A C, Keng, W T, Lapatto, R, McClean, P, Mulder, M F, Tylki-Szymańska, A, Walenkamp, M J E, Alfadhel, M, Alakeel, H, Salomons, G S, Eyaid, W, Wamelink, M M C
Published in Journal of inherited metabolic disease (02.05.2018)
Published in Journal of inherited metabolic disease (02.05.2018)
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Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease
Mercimek-Mahmutoglu, S., Sinclair, G., van Dooren, S.J.M., Kanhai, W., Ashcraft, P., Michel, O.J., Nelson, J., Betsalel, O.T., Sweetman, L., Jakobs, C., Salomons, G.S.
Published in Molecular genetics and metabolism (01.11.2012)
Published in Molecular genetics and metabolism (01.11.2012)
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