Newborn screening for homocystinurias: recent recommendations versus current practice von Keller, R, Chrastina, P, Pavlíková, M, Gouveia, S, Ribes, A, Kölker, S, Blom, H J, Baumgartner, M R, Bártl, J, Dionisi Vici, C, Gleich, F, Morris, A A, Kožich, V, Huemer, M, Barić, I, Ben-Omran, T, Blasco-Alonso, J, Bueno Delgado, M A, Carducci, C, Cassanello, M, Cerone, R, Couce, M L, Crushell, E, Delgado Pecellin, C, Dulin, E, Espada, M, Ferino, G, Fingerhut, R, Garcia Jimenez, I, Gonzalez Gallego, I, González-Irazabal, Y, Gramer, G, Juan Fita, M J, Karg, E, Klein, J, Konstantopoulou, V, la Marca, G, Leão Teles, E, Leuzzi, V, Lilliu, F, Lopez, R M, Lund, A M, Mayne, P, Meavilla, S, Moat, S J, Okun, J G, Pasquini, E, Pedron-Giner, C, Racz, G Z, Ruiz Gomez, M A, Vilarinho, L, Yahyaoui, R, Zerjav Tansek, M, Zetterström, R H, Zeyda, M

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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry von Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A, Seifert, Burkhardt, Froese, D Sean, Baumgartner, Matthias R, Dionisi-Vici, Carlo, Alcalde Martin, C, Baethmann, M, Ballhausen, D, Blasco-Alonso, J, Boy, N, Bueno, M, Burgos Peláez, R, Cerone, R, Chabrol, B, Chapman, K A, Couce, M L, Crushell, E, Dalmau Serra, J, Diogo, L, Ficicioglu, C, García Jimenez, M C, García Silva, M T, Gaspar, A M, Gautschi, M, González-Lamuño, D, Gouveia, S, Grünewald, S, Hendriksz, C, Janssen, M C H, Jesina, P, Koch, J, Konstantopoulou, V, Lavigne, C, Lund, A M, Martins, E G, Meavilla Olivas, S, Mention, K, Mochel, F, Mundy, H, Murphy, E, Paquay, S, Pedrón-Giner, C, Ruiz Gómez, M A, Santra, S, Schiff, M, Schwartz, I V, Scholl-Bürgi, S, Servais, A, Skouma, A, Tran, C, Vives Piñera, I, Walter, J, Weisfeld-Adams, J

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Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease von Simon, E., Fingerhut, R., Baumkötter, J., Konstantopoulou, V., Ratschmann, R., Wendel, U.

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Mutation analysis in 54 propionic acidemia patients von Kraus, J. P., Spector, E., Venezia, S., Estes, P., Chiang, P. W., Creadon-Swindell, G., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Ugarte, M., Sperl, W., Superti-Furga, A., Schwab, K. O., Grünert, S. C., Sass, J. O.

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The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients von Skladal, D., Sudmeier, C., Konstantopoulou, V., Stöckler-Ipsiroglu, S., Plecko-Startinig, B., Bernert, G., Zeman, J., Sperl, W.

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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency von Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger

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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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Analysis of the functional muscle–bone unit of the forearm in juvenile patients with phenylketonuria (PKU) by peripheral quantitative computed tomography von Kneppo, C, Feneberg, R, Kleiner, A, Lindner, M, Koelker, S, Konstantopoulou, V, Kasperk, C, Burgard, P, Schoenau, E, Hoffmann, G.F, Toenshoff, B

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Newborn screening for homocystinurias: Recent recommendations versus current practice von Keller, Rebecca, Chrastina, Petr, Pavlíková, Markéta, Gouveia, Sofía, Ribes, Antonia, Kölker, Stefan, Blom, Henk J., Baumgartner, Matthias R., Bártl, Josef, Dionisi‐Vici, Carlo, Gleich, Florian, Morris, Andrew A., Kožich, Viktor, Huemer, Martina, Barić, Ivo, Ben‐Omran, Tawfeq, Blasco‐Alonso, Javier, Bueno Delgado, Maria A., Carducci, Claudia, Cassanello, Michela, Cerone, Roberto, Couce, Maria Luz, Crushell, Ellen, Delgado Pecellin, Carmen, Dulin, Elena, Espada, Mercedes, Ferino, Giulio, Fingerhut, Ralph, Garcia Jimenez, Immaculada, Gonzalez Gallego, Immaculada, González‐Irazabal, Yolanda, Gramer, Gwendolyn, Juan Fita, Maria Jesus, Karg, Eszter, Klein, Jeanette, Konstantopoulou, Vassiliki, la Marca, Giancarlo, Leão Teles, Elisa, Leuzzi, Vincenzo, Lilliu, Franco, Lopez, Rosa Maria, Lund, Allan M., Mayne, Philip, Meavilla, Silvia, Moat, Stuart J., Okun, Jürgen G., Pasquini, Elisabeta, Pedron‐Giner, Consuélo Carmen, Racz, Gabor Zoltan, Ruiz Gomez, Maria Angeles, Vilarinho, Laura, Yahyaoui, Raquel, Zerjav Tansek, Moja, Zetterström, Rolf H., Zeyda, Maximilian

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Propionic acidemia: neonatal versus selective metabolic screening von Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O., Sass, J. O.

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Cosmetic breast augmentation and suicide risk: a puzzling association von Spyropoulou, A, Konstantopoulou, V

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Management of phenylketonuria in Europe: Survey results from 19 countries von Blau, Nenad, Bélanger-Quintana, Amaya, Demirkol, Mübeccel, Feillet, François, Giovannini, Marcello, MacDonald, Anita, Trefz, Friedrich K., Spronsen, Francjan van

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Very high plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease von Skladal, D., Grissenauer, G., Konstantopoulou, V., Felber, S., Sperl, W.

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TMEM70 deficiency: long-term outcome of 48 patients von Magner, M, Dvorakova, V, Tesarova, M, Mazurova, S, Hansikova, H, Zahorec, M, Brennerova, K, Bzduch, V, Spiegel, R, Horovitz, Y, Mandel, H, Eminoglu, F.T, Mayr, J.A, Koch, J, Martinelli, D, Bertini, E, Konstantopoulou, V, Smet, J, Rahman, S, Broomfield, A, Stojanovic, V, Dionisi-Vici, C, van Coster, R, Morava, Eva, Sperl, W, Zeman, J, Honzik, T

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EEG-alterations in patients with propionic acidemia von Haberlandt, E, Trinka, E, Zimmerhackl, LB, Baumgartner, S, Konstantopoulou, V, Scholl-Bürgi, S, Felber, S, Skladal, D

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High plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease von Skladal, D., Grissenauer, G., Konstantopoulou, V., Felker, S., Sperl, W.

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Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants von Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R, Neuhausen, Susan L, Hopper, John L, Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T, Andrulis, Irene L, Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S, Caputo, Sandrine M, Chung, Wendy K, Colas, Chrystelle, Colonna, Sarah V, Cook, Jackie, Daly, Mary B, de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Fehm, Tanja N, Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E, Golmard, Lisa, Greene, Mark H, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M, Karlan, Beth Y, Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Ngeow Yuen Yie, Joanne, Niederacher, Dieter, Park, Sue K, Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K, Senter, Leigha, Shariff, Saba, Singer, Christian F, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Vega, Ana, Wagner, Sebastian A, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H F, Yannoukakos, Drakoulis, Spurdle, Amanda B, Easton, Douglas F, Chenevix-Trench, Georgia

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Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer von Couch, Fergus J, Hart, Steven N, Sharma, Priyanka, Toland, Amanda Ewart, Wang, Xianshu, Miron, Penelope, Olson, Janet E, Godwin, Andrew K, Pankratz, V Shane, Olswold, Curtis, Slettedahl, Seth, Hallberg, Emily, Guidugli, Lucia, Davila, Jaime I, Beckmann, Matthias W, Janni, Wolfgang, Rack, Brigitte, Ekici, Arif B, Slamon, Dennis J, Konstantopoulou, Irene, Fostira, Florentia, Vratimos, Athanassios, Fountzilas, George, Pelttari, Liisa M, Tapper, William J, Durcan, Lorraine, Cross, Simon S, Pilarski, Robert, Shapiro, Charles L, Klemp, Jennifer, Yao, Song, Garber, Judy, Cox, Angela, Brauch, Hiltrud, Ambrosone, Christine, Nevanlinna, Heli, Yannoukakos, Drakoulis, Slager, Susan L, Vachon, Celine M, Eccles, Diana M, Fasching, Peter A

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The cosmic buildup of dust and metals von Heintz, K E, De Cia, A, Thöne, C C, J.-K. Krogager, Yates, R M, Vejlgaard, S, Konstantopoulou, C, Fynbo, J P U, Watson, D, Narayanan, D, Wilson, S N, Arabsalmani, M, Campana, S, V. D’Elia, De Pasquale, M, Hartmann, D H, Izzo, L, Jakobsson, P, Kouveliotou, C, Levan, A, Q. Li, Malesani, D B, Melandri, A, Milvang-Jensen, B, Møller, P, Palazzi, E, Palmerio, J, Petitjean, P, Pugliese, G, Rossi, A, Saccardi, A, Salvaterra, R, Savaglio, S, Schady, P, Stratta, G, Tanvir, N R, A. de Ugarte Postigo, Vergani, S D, Wiersema, K, R. A. M. J. Wijers, Zafar, T

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Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation von Apostolou, P., Pertesi, M., Aleporou‐Marinou, V., Dimitrakakis, C., Papadimitriou, C., Razis, E., Christodoulou, C., Fountzilas, G., Yannoukakos, D., Konstantopoulou, I., Fostira, F.

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