Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism von Vogel, K.R., Ainslie, G.R., Jansen, E.E.W., Salomons, G.S., Gibson, K.M.

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Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency von SCHULZE, A, HOFFMANN, G. F, BACHERT, P, KIRSCH, S, SALOMONS, G. S, VERHOEVEN, N. M, MAYATEPEK, E

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

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Clinical features and X-inactivation in females heterozygous for creatine transporter defect von 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

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Alexander disease : Ventricular garlands and abnormalities of the medulla and spinal cord von VAN DER KNAAP, M. S, RAMESH, V, BARKHOF, F, SALOMONS, G. S, SCHIFFMANN, R, BLASER, S, KYLLERMAN, M, GHOLKAR, A, ELLISON, D. W, VAN DER VOORN, J. P, VAN DOOREN, S. J. M, JAKOBS, C

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Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism von Jansen, E. E., Vogel, K. R., Salomons, G. S., Pearl, P. L., Roullet, J.-B., Gibson, K. M.

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A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene von 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.

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Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1 von 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.

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GAMT deficiency : Features, treatment, and outcome in an inborn error of creatine synthesis von MERCIMEK-MAHMUTOGLU, S, STOECKLER-IPSIROGLU, S, 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, ADAMI, A, VERHOEVEN, N. M, VILARINHO, L, WILICHOWSKI, E, JAKOBS, C, APPLETON, R, CALDEIRA ARAUJO, H, DURAN, M, ENSENAUER, R, FERNANDEZ-ALVAREZ, E, GARCIA, P, GROLIK, C

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High frequency of creatine deficiency syndromes in patients with unexplained mental retardation von LION-FRANCOIS, L, CHEILLAN, D, JAKOBS, C, SALOMONS, G. S, DES PORTES, V, PITELET, G, ACQUAVIVA-BOURDAIN, C, BUSSY, G, COTTON, F, GUIBAUD, L, GERARD, D, RIVIER, C, VIANEY-SABAN, C

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Poster — Thur Eve — 29: Detecting changes in IMRT QA using statistical process control von Drever, L, Salomons, G

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Creatine deficiency syndrome. A treatable myopathy due to arginine–glycine amidinotransferase (AGAT) deficiency von Nouioua, S, Cheillan, D, Zaouidi, S, Salomons, G.S, Amedjout, N, Kessaci, F, Boulahdour, N, Hamadouche, T, Tazir, M

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TU-D-BRA-01: TPS Commissioning and QA: Planning and Monitoring von Salomons, G.

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Direct comparison of quantitative digital PCR and 2-hydroxyglutarate enantiomeric ratio for IDH mutant allele frequency assessment in myeloid malignancy von 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

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Frequent reconstitution of IDH2(R140Q) mutant clonal multilineage hematopoiesis following chemotherapy for acute myeloid leukemia von 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

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Electron Therapy for Nonmelanoma Skin Cancers: Computer Simulated Bolus Versus Actual Physical Bolus for Treatment Planning von Yip, D, Salomons, G, Bracken, G, Brundage, M

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Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation von Jaeger, B., Abeling, N.G., Salomons, G.S., Struys, E.A., Simas-Mendes, M., Geukers, V.G., Poll-The, B.T.

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X‐linked creatine transporter defect: An overview von Salomons, G. S., Van Dooren, S. J. M., Verhoeven, N. M., Marsden, D., Schwartz, C., Cecil, K. M., DeGrauw, T. J., Jakobs, C.

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WE‐AB‐201‐01: Treatment Planning System Commissioning and QA: Challenges and Opportunities von Salomons, G.

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Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease von 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.

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