Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring von Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara, Longo, Nicola, Korenke, G. Christoph, Mercimek-Mahmutoglu, Saadet, Marquart, Iris, Barshop, Bruce, Grolik, Christiane, Schlune, Andrea, Angle, Brad, Araújo, Helena Caldeira, Coskun, Turgay, Diogo, Luisa, Geraghty, Michael, Haliloglu, Goknur, Konstantopoulou, Vassiliki, Leuzzi, Vincenzo, Levtova, Alina, MacKenzie, Jennifer, Maranda, Bruno, Mhanni, Aizeddin A., Mitchell, Grant, Morris, Andrew, Newlove, Theresa, Renaud, Deborah, Scaglia, Fernando, Valayannopoulos, Vassili, van Spronsen, Francjan J., Verbruggen, Krijn T., Yuskiv, Nataliya, Nyhan, William, Schulze, Andreas

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Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity von Mendes, Marisa I, Smith, Desirée EC, Pop, Ana, Lennertz, Pascal, Fernandez Ojeda, Matilde R, Kanhai, Warsha A, Dooren, Silvy JM, Anikster, Yair, Barić, Ivo, Boelen, Caroline, Campistol, Jaime, Boer, Lonneke, Kariminejad, Ariana, Kayserili, Hulya, Roubertie, Agathe, Verbruggen, Krijn T, Vianey‐Saban, Christine, Williams, Monique, Salomons, Gajja S

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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances von Doornbos, Marianne, Sikkema-Raddatz, Birgit, Ruijvenkamp, Claudia A.L, Dijkhuizen, Trijnie, Bijlsma, Emilia K, Gijsbers, Antoinet C.J, Hilhorst-Hofstee, Yvonne, Hordijk, Roel, Verbruggen, Krijn T, Kerstjens-Frederikse, W.S. (Mieke), van Essen, Ton, Kok, Klaas, van Silfhout, Anneke T, Breuning, Martijn, van Ravenswaaij-Arts, Conny M.A

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Quantitative multivoxel proton spectroscopy of the brain in developmental delay von Verbruggen, Krijn T., Maurits, Natasha M., Meiners, Linda C., Brouwer, Oebele F., van Spronsen, Francjan J., Sijens, Paul E.

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Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology von Verbruggen, Krijn T., Sijens, Paul E., Schulze, Andreas, Lunsing, Roelineke J., Jakobs, Cornelis, Salomons, Gajja S., van Spronsen, Francjan J.

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Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay von Verbruggen, Krijn T, Meiners, Linda C, Sijens, Paul E, Lunsing, Roelineke J, van Spronsen, Francjan J, Brouwer, Oebele F

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Global developmental delay in guanidionacetate methyltransferase deficiency : differences in formal testing and clinical observation von VERBRUGGEN, Krijn T, KNIJFF-ROELINEKE, Wilma A, SOORANI-LUNSING, J, SIJENS, Paul E, VERHOEVEN, Nanda M, SALOMONS, Gajja S, GOORHUIS-BROUWER, Siena M, VAN SPRONSEN, Francjan J

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Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity: HUMAN MUTATION von Mendes, Marisa I, Smith, Desirée EC, Pop, Ana, Lennertz, Pascal, Fernandez Ojeda, Matilde R, Kanhai, Warsha A, van Dooren, Silvy JM, Anikster, Yair, Barić, Ivo, Boelen, Caroline, Campistol, Jaime, de Boer, Lonneke, Kariminejad, Ariana, Kayserili, Hulya, Roubertie, Agathe, Verbruggen, Krijn T, Vianey-Saban, Christine, Williams, Monique, Salomons, Gajja S

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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader―Willi critical region, possibly associated with behavioural disturbances: Emerging Microdeletio... von DOORNBOS, Marianne, SIKKEMA-RADDATZ, Birgit, VAN ESSEN, Ton, KOK, Klaas, VAN SILFHOUT, Anneke T, BREUNING, Martijn, VAN RAVENSWAAIJ-ARTS, Conny M. A, RUIJVENKAMP, Claudia A. L, DIJKHUIZEN, Trijnie, BIJLSMA, Emilia K, GIJSBERS, Antoinet C. J, HILHORST-HOFSTEE, Yvonne, HORDIJK, Roel, VERBRUGGEN, Krijn T, KERSTJENS-FREDERIKSE, W. S

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A Systematic Approach to Evaluate Sudden Unexplained Death in Children von Pries, Annelotte Maretta, Ruskamp, Jopje Marlies, Edelenbos, Esther, Fuijkschot, Joris, Semmekrot, Ben, Verbruggen, Krijn Teunis, van de Putte, Elise, Puiman, Patrycja Jolanta

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A Systematic Approach to Evaluate Sudden Unexplained Death in Children von Pries, Annelotte Maretta, Ruskamp, Jopje Marlies, Edelenbos, Esther, Fuijkschot, Joris, Semmekrot, Ben, Verbruggen, Krijn Teunis, van de Putte, Elise, Puiman, Patrycja Jolanta

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