The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) by Harmatz, P., Hendriksz, C.J., Lampe, C., McGill, J.J., Parini, R., Leão-Teles, E., Valayannopoulos, V., Cole, T.J., Matousek, R., Graham, S., Guffon, N., Quartel, A.

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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy by Braunlin, E., Rosenfeld, H., Kampmann, C., Johnson, J., Beck, M., Giugliani, R., Guffon, N., Ketteridge, D., Sá Miranda, C. M., Scarpa, M., Schwartz, I. V., Leão Teles, E., Wraith, J. E., Barrios, P., Dias da Silva, E., Kurio, G., Richardson, M., Gildengorin, G., Hopwood, J. J., Imperiale, M., Schatz, A., Decker, C., Harmatz, P.

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The GM2 ganglioside inhibits iNKT cell responses in a CD1d-dependent manner by Pereira, C.S., Ribeiro, H., Pérez-Cabezas, B., Cardoso, M.T., Alegrete, N., Gaspar, A., Leão-Teles, E., Macedo, M.F.

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Participation in data generation and information sharing: are patients and carers willing to engage? by De Freitas, C, Silva, S, Leão Teles, E, Maia, T, Amorim, M

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Support for decision-making on sharing health data for research: are data counsellors relevant? by De Freitas, C, Silva, S, Machado, H, Baptista, MJ, Leão Teles, E, Maia, T, Amorim, M

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Public preferences for involvement in the governance of health data by De Freitas, C, Amorim, M, Leão Teles, E, Maia, T, Machado, H, Silva, S

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Newborn screening for homocystinurias: recent recommendations versus current practice by 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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Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal by Ventura, F.V., Leandro, P., Luz, A., Rivera, I.A., Silva, M.F.B., Ramos, R., Rocha, H., Lopes, A., Fonseca, H., Gaspar, A., Diogo, L., Martins, E., Leão-Teles, E., Vilarinho, L., Tavares de Almeida, I.

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LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family by Nunes, D, Nogueira, C, Lopes, A, Chaves, P, Rodrigues, E, Cardoso, T, Leão Teles, E, Vilarinho, L

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Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients by Pereira, Catia S, Pérez-Cabezas, Begoña, Ribeiro, Helena, Maia, M Luz, Cardoso, M Teresa, Dias, Ana F, Azevedo, Olga, Ferreira, M Fatima, Garcia, Paula, Rodrigues, Esmeralda, Castro-Chaves, Paulo, Martins, Esmeralda, Aguiar, Patricio, Pineda, Mercè, Amraoui, Yasmina, Fecarotta, Simona, Leão-Teles, Elisa, Deng, Shenglou, Savage, Paul B, Macedo, M Fatima

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The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) by Jones, Simon A., Parini, Rossella, Harmatz, Paul, Giugliani, Roberto, Fang, Juanzhi, Mendelsohn, Nancy J.

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HTA26 Portuguese Clinical Practice and Costs in the Treatment of Acid Sphingomyelinase Deficiency Disease by Silva Miguel, L., Carvalho, P., Oliveira, A., Guimas, A., Leão Teles, E., Ferreira, S., Bulhosa, C., Pinheiro, B., Borges, M.

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Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth re... by Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Lund, Allan M., Rizopoulos, Dimitris, Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco-Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes I., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Karall, D., Scholl-Bürgi, S., De Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Peña-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I., Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Barić, I.

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Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey... by Giugliani, Roberto, Lampe, Christina, Guffon, Nathalie, Ketteridge, David, Leão-Teles, Elisa, Wraith, James E., Jones, Simon A., Piscia-Nichols, Cheri, Lin, Ping, Quartel, Adrian, Harmatz, Paul

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Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders by Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C. S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffmann, Georg F., Burgard, Peter, Schulze, Andreas, McCandless, Shawn E., Garcia‐Cazorla, Angeles, Seminara, Jennifer, Garbade, Sven F., Kölker, Stefan, Lee, Brendan, Harding, Cary O., Coughlin, Curtis R., Le Mons, Cynthia, Dobbelaere, Dries, Leão Teles, Elisa, Cortès‐Saladelafont, Elisenda, Gleich, Florian, Eyskens, Francois, Enns, Gregory, Wilkening, Greta N., Barić, Ivo, Lawrence Merritt, J., Heringer, Jana, Blasco‐Alonso, Javier, Zeman, Jiri, Häberle, Johannes, Sykut‐Cegielska, Jolanta, Djordjevic, Maja, Batshaw, Mark L., Summar, Marshall, Freisinger, Peter, Gallagher, Renata C., Berry, Susan A., Waisbren, Susan, Stricker, Tamar

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Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry by Molema, Femke, Gleich, Florian, Burgard, Peter, Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides‐Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco‐Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes i, Dionisi‐Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Karall, D., Scholl‐Bürgi, S., Lachmann, R., De Laet, C., Matsumoto, S., Meirleir, L., Mühlhausen, C., Schiff, M., Peña‐Quintana, L., Djordjevic, M., Sarajlija, A., Sykut‐Cegielska, J., Wisniewska, A., Leao‐Teles, E., Alves, S., Vara, R., Vives‐Pinera, I., Ortega, D.G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C.

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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey by van Wegberg, Annemiek M.J., Trefz, Friedrich, Gizewska, Maria, Ahmed, Sibtain, Chabraoui, Layachi, van Spronsen, Francjan J., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Cozens, A., Das, A.M., de las Heras Montero, J., Debray, F.G., Dercksen, M., Descartes, M., Eminoglu, F.T., Enns, G.M., Ford, S., Freisinger, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Hoi-Yee Wu, T., Jamuar, S.S., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Mitchell, J., Mochel, F., Morris, A., Moura de Souza, C.F., Munoz, T., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Pitt, J., Poon, G., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sander, J., Schwartz, I.V.D., Sharma, R., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Wagenmakers, M.A.E.M., Weinhold, N., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A.

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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders by Posset, Roland, Garbade, Sven F., Gleich, Florian, Gropman, Andrea L., de Lonlay, Pascale, Hoffmann, Georg F., Garcia-Cazorla, Angeles, Nagamani, Sandesh C. S., Baumgartner, Matthias R., Schulze, Andreas, Dobbelaere, Dries, Yudkoff, Marc, Kölker, Stefan, Zielonka, Matthias

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review by Panis, Bianca, Vos, E Naomi, Barić, Ivo, Bosch, Annet M, Brouwers, Martijn C G J, Burlina, Alberto, Cassiman, David, Coman, David J, Couce, María L, Das, Anibh M, Demirbas, Didem, Empain, Aurélie, Gautschi, Matthias, Grafakou, Olga, Grunewald, Stephanie, Kingma, Sandra D K, Knerr, Ina, Leão-Teles, Elisa, Möslinger, Dorothea, Murphy, Elaine, Õunap, Katrin, Pané, Adriana, Paci, Sabrina, Parini, Rossella, Rivera, Isabel A, Scholl-Bürgi, Sabine, Schwartz, Ida V D, Sdogou, Triantafyllia, Shakerdi, Loai A, Skouma, Anastasia, Stepien, Karolina M, Treacy, Eileen P, Waisbren, Susan, Berry, Gerard T, Rubio-Gozalbo, M Estela

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Early prediction of phenotypic severity in Citrullinemia Type 1 by Zielonka, Matthias, Kölker, Stefan, Gleich, Florian, Stützenberger, Nicolas, Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Garbade, Sven F., Posset, Roland

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