P105 – 2378: Microcephaly, pontocerebellar hypoplasia and epilepsy in patients with CASK mutations von Máté, A, Szakszon, K, Nagy, A.J, Zombor, M, Rudas, G, Zimmermann, A, van Ruissen, F, Baas, F, Sztriha, L

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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network von Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio

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Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene von Mercimek-Mahmutoglu, Saadet, Ndika, Joseph, Kanhai, Warsha, de Villemeur, Thierry Billette, Cheillan, David, Christensen, Ernst, Dorison, Nathalie, Hannig, Vickie, Hendriks, Yvonne, Hofstede, Floris C., Lion-Francois, Laurence, Lund, Allan M., Mundy, Helen, Pitelet, Gaele, Raspall-Chaure, Miquel, Scott-Schwoerer, Jessica A., Szakszon, Katalin, Valayannopoulos, Vassili, Williams, Monique, Salomons, Gajja S.

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The Satiety Factor Apolipoprotein A-IV Modulates Intestinal Epithelial Permeability through its Interaction with α-Catenin: Implications for Inflammatory Bowel Diseases von Orsó, E., Moehle, C., Boettcher, A., Szakszon, K., Werner, T., Langmann, T., Liebisch, G., Buechler, C., Ritter, M., Kronenberg, F., Dieplinger, H., Bornstein, S. R., Stremmel, W., Schmitz, G.

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Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome von Szakszon, Katalin, Felszeghy, Enikő, Csízy, István, Józsa, Tamás, Káposzta, Rita, Balogh, Erzsébet, Oláh, Éva, Balogh, István, Berényi, Ervin, Knegt, Alida C, Ilyés, István

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Successful surgical intervention in a case of spontaneous chylothorax in an infant unresponsive to conservative therapy von Szakszon, K., Veres, Z. L., Boros, M., Kiss, S. Sz, Nagy, B., Bálega, E., Papp, á., Németh, E., Pataki, I., Szabó, T.

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W12-P-048 Ezetimib modulates the in vitrodifferentiation and membrane microdomain function in human macrophages von Orsó, E., Bandulik, S., Wolf, Z.S., Szakszon, K., Binder, M., Werner, T., Grandl, M., Koebling, T., Liebisch, G., Kramer, W., Schmitz, G.

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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants von van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Trajkova, Slavica, Huisman, Sylvia A., Bijlsma, Emilia K., Kleefstra, Tjitske, van Bon, Bregje W., Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W., van Hagen, Johanna M., Plomp, Astrid S., Mannens, Marcel M.A.M., Alders, Mariëlle, van Haelst, Mieke M., Ferrero, Giovanni B., Brusco, Alfredo, Henneman, Peter, Sweetser, David A., Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie A.

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