The natural history of classic galactosemia: lessons from the GalNet registry von Rubio-Gozalbo, M E, Haskovic, M, Bosch, A M, Burnyte, B, Coelho, A I, Cassiman, D, Couce, M L, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, M T, Grunewald, S, Häberle, J, Hochuli, M, Hubert, A, Huidekoper, H H, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, Y E, Langendonk, J G, Möslinger, D, Müller-Wieland, D, Murphy, E, Õunap, K, Ramadza, D, Rivera, I A, Scholl-Buergi, S, Stepien, K M, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, R, de Vries, M, Waisbren, S E, Welsink-Karssies, M M, Wortmann, S B, Gautschi, M, Treacy, E P, Berry, G T

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Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment von Mikalauskas, T., Burnytė, B.

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A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lympho-histiocytosis and normal pigmentation von Tesi, B, Rascon, J, Chiang, SCC, Burnyte, B, Lofstedt, A, Fasth, A, Heizmann, M, Juozapaite, S, Kiudeliene, R, Kvedaraite, E

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LGMD: EP.195 The most common CAPN3 disease causing variant in north-eastern Europe population or controversial coincidence von Lace, B., Stavusis, J., Micule, I., Kenina, V., Taurina, G., Zdanovica, A., Mroczek, M., Burnyte, B., Inaskina, I.

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LGMD von Lace, B., Stavusis, J., Micule, I., Kenina, V., Taurina, G., Zdanovica, A., Mroczek, M., Burnyte, B., Inaskina, I.

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A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation von Tesi, Bianca, Rascon, Jelena, Chiang, Samuel C.C., Burnyte, Birute, Löfstedt, Alexandra, Fasth, Anders, Heizmann, Miriam, Juozapaite, Sandra, Kiudeliene, Rosita, Kvedaraite, Egle, Miseviciene, Valdone, Muleviciene, Audrone, Müller, Martha-Lena, Nordenskjöld, Magnus, Matuzeviciene, Reda, Samaitiene, Ruta, Speckmann, Carsten, Stankeviciene, Sigita, Zekas, Vytautas, Voss, Matthias, Ehl, Stephan, Vaiciene-Magistris, Nerija, Henter, Jan-Inge, Meeths, Marie, Bryceson, Yenan T.

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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants von Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia

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Hereditary neuropathy with liability to pressure palsies: a case series report von Naudžiūnaitė, S., Bunevičiūtė, R., Burnytė, B.

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EP.61DMD gene molecular genetic characterization in Eastern Europe and non European countries von Selvatici, R., Trabanelli, C., Buldrini, B., Fini, S., Gualandi, F., Rimessi, P., Neri, M., Fortunato, F., Potulska, A., Emandi, A., Lehman, I., Herczegfalvi, A., Guergueltcheva, V., Kyriakides, T., Sifi, Y., Molnar, M., Burnyte, B., Shatillo, A., Vlodavets, D., Ferlini, A.

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The natural history of classic galactosemia: Lessons from the GalNet registry von Rubio-Gozalbo, M. E, Haskovic, M, Bosch, A. M, Burnyte, B, Coelho, A. I, Cassiman, D, Couce, M. L, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, M. T, Grunewald, S, Häberle, J, Hochuli, M, Hubert, A, Huidekoper, H. H, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, Y. E, Langendonk, J. G, Möslinger, D, Müller-Wieland, D, Murphy, E, Õunap, K, Ramadza, D, Rivera, I. A, Scholl-Buergi, S, Stepien, K. M, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, R, De Vries, M, Waisbren, S. E, Welsink-Karssies, M. M, Wortmann, S. B, Gautschi, M, Treacy, E. P, Berry, G. T

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The natural history of classic galactosemia: lessons from the GalNet registry von Rubio-Gozalbo, M.E, Haskovic, M, Bosch, A.M, Burnyte, B, Coelho, A.I, Cassiman, D, Couce, M.L, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, M.T, Grunewald, S, Haberle, J, Hochuli, M, Hubert, A, Huidekoper, H.H, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, Y.E, Langendonk, J.G, Moeslinger, D, Mueller-Wieland, D, Murphy, E, Ounap, K, Ramadza, D, Rivera, I.A, Scholl-Buergi, S, Stepien, K.M, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, R, de Vries, M, Waisbren, S.E, Welsink-Karssies, M.M, Wortmann, S.B, Gautschi, M, Treacy, E.P, Berry, G.T

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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis von Vila Cuenca, M, Marchi, G, Barqué, A, Esteban-Jurado, C, Marchetto, A, Giorgetti, A, Chelban, V, Houlden, H, Wood, NW, Piubelli, C, Dorigatti Borges, M, Martins de Albuquerque, D, Yotsumoto Fertrin, K, Jové-Buxeda, E, Sanchez-Delgado, J, Baena-Díez, N, Burnyte, B, Utkus, A, Busti, F, Kaubrys, G, Suku, E, Kowalczyk, K, Karaszewski, B, Porter, JB, Pollard, S, Eleftheriou, P, Bignell, P, Girelli, D, Sanchez, M

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Further insights in the FKBP14-related kyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants von Colman, Marlies, Vroman, Robin, Dhooge, Tibbe, Malfait, Zoë, Burnyté, B, Nampoothiri, S, Kariminejad, A, Syx, Delfien, Malfait, Fransiska

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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis von Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Díez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B, Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka

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Genetic landscape of pediatric acute liver failure of indeterminate origin von Lenz, Dominic, Schlieben, Lea D, Shimura, Masaru, Bianzano, Alyssa, Smirnov, Dmitrii, Kopajtich, Robert, Berutti, Riccardo, Adam, Rüdiger, Aldrian, Denise, Baric, Ivo, Baumann, Ulrich, Bozbulut, Neslihan Eksi, Brugger, Melanie, Brunet, Theresa, Bufler, Philip, Burnytė, Birutė, Calvo, Pier Luigi, Crushell, Ellen, Dalgıç, Buket, Das, Anibh M, Dezsőfi, Antal, Distelmaier, Felix, Fichtner, Alexander, Freisinger, Peter, Garbade, Sven F, Gaspar, Harald, Goujon, Louise, Hadzic, Nedim, Hartleif, Steffen, Hegen, Bianca, Hempel, Maja, Henning, Stephan, Hoerning, Andre, Houwen, Roderick, Hughes, Joanne, Iorio, Raffaele, Iwanicka-Pronicka, Katarzyna, Jankofsky, Martin, Junge, Norman, Kanavaki, Ino, Kansu, Aydan, Kaspar, Sonja, Kathemann, Simone, Kelly, Deidre, Kırsaçlıoğlu, Ceyda Tuna, Knoppke, Birgit, Kohl, Martina, Kölbel, Heike, Kölker, Stefan, Konstantopoulou, Vassiliki, Krylova, Tatiana, Kuloğlu, Zarife, Kuster, Alice, Laass, Martin W, Lainka, Elke, Lurz, Eberhard, Mandel, Hanna, Mayerhanser, Katharina, Mayr, Johannes A, McKiernan, Patrick, McLean, Patricia, McLin, Valerie, Mention, Karine, Müller, Hanna, Pasquier, Laurent, Pavlov, Martin, Pechatnikova, Natalia, Peters, Bianca, Petković Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Pilic, Denisa, Rajwal, Sanjay, Rock, Nathalie, Roetig, Agnès, Santer, René, Schenk, Wilfried, Semenova, Natalia, Sokollik, Christiane, Sturm, Ekkehard, Taylor, Robert W, Tschiedel, Eva, Urbonas, Vaidotas, Urreizti, Roser, Vermehren, Jan, Vockley, Jerry, Vogel, Georg-Friedrich, Wagner, Matias, van der Woerd, Wendy, Wortmann, Saskia B, Zakharova, Ekaterina, Hoffmann, Georg Friedrich, Meitinger, Thomas, Murayama, Kei, Staufner, Christian, Prokisch, Holger

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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis von Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sánchez-Delgado, Jordi, Baena Díez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B, Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sánchez-Fernández, Mayka

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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis von Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sánchez-Delgado, Jordi, Baena Díez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B, Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sánchez-Fernández, Mayka

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Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis von Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Díez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B, Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka

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