Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations - different outcome? by Politei, J., Schenone, A.B., Cabrera, G., Heguilen, R., Szlago, M.

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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting by Winchester, B., Bali, D., Bodamer, O.A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumić, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O.P., Wuyts, B., Zakharova, E., Keutzer, J.

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p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients by Pasqualim, G., Ribeiro, M.G., da Fonseca, G.G.G., Szlago, M., Schenone, A., Lemes, A., Rojas, M.V.M., Matte, U., Giugliani, R.

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Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles by Canals, I, Elalaoui, SC, Pineda, M, Delgadillo, V, Szlago, M, Jaouad, IC, Sefiani, A, Chabás, A, Coll, MJ, Grinberg, D, Vilageliu, L

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Natural History of Vanishing White Matter by Hamilton, Eline M. C., van der Lei, Hannemieke D. W., Lourenço, Charles M., Naidu, Sakkubai, Mierzewska, Hanna, de Vet, Henrica C. W., Uitdehaag, Bernard M. J., Lissenberg‐Witte, Birgit I., Aldhalaan, H., Alves, D., Appleton, R., Arslan, E.A., Baethmann, M., Banwell, B., Barbot, C., Bertini, E., Bley, A., Bollen, L., Boltshauser, E., Bower, S., Bravo Oro, A., Campos, M.M., Carr, L., Chan, A.K.J., Clarke, A., Crow, Y., Csányi, B., Del Rossario Aldao, M., D'Hooghe, M., El Helou, J, Fallon, P., Ferlini, A., Ferro, J.M., Fluss, J., Fontenelle, L., Garone, C., Geldhoff, M., Glamuzina, E., Góes, F., Gonzalez, V., Guarda, C., Gulati, S., Güler, S., Horvath, R., Jagadeesh, S., Kaczorowska, M., Kankirawatana, P., Karall, D., King, M.D., Krägeloh‐Mann, I., Lehman, A., Liptai, Z., Livingston, J.H., Maes, M., Majumdar, A., Mandel, H., McEntagart, M., Morton, R., Moura de Souza, C.F., Mundy, H., Naess, K., Naismith, K., Newton, R.W., Noetzel, M.J., O'Brien, B, Okálová, K., Østergaard, J.R., Pato Pato, A., Pera, J., Perlman, S., Philippart, M., Régal, L., Rice, C.M., Rossignol, E., Rubin, J.P., Salvi, F., Sampaio, H., Sánchez Herrero, J., Santos, E., Sessa, M., Sharma, S., Shearn, J., Shoffner, J., Skranes, J.S., Sparagana, S.P., Storey, E., Sztriha, L., Tatli, B., Tekturk, P., Tennison, M., Tirupathi, S., Toledo Bravo de Laguna, L., Tuna, M.A., Valverde, A., van Coster, R., Vasconcelos, M., Vogt, H., von Kleist‐Retzow, J.C., Wong, S.S.N., Yavuz, H.

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism by Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith

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Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulationsￂ -ￂ different outcome? by Politei, J, Schenone, AB, Cabrera, G, Heguilen, R, Szlago, M

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p. L18P : a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients by Pasqualim, G., Ribeiro, M.G., da Fonseca, G.G.G., Szlago, M., Schenone, A., Lemes, A., Rojas, M.V.M., Matte, U., Giugliani, R.

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Mucopolysaccharidosis VI by Juan Politei MD, Andrea Beatriz Schenone MD, Cabrera Gustavo MD, Antacle Alejandra MD, Szlago Marina MD

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Myoclonus and angiokeratomas in adult galactosialidosis by Abaroa, Luz, Garretto, Nelida S., Arakaki, Tomoko, Kauffman, Marcelo, Moron, Dolores G., Figueredo, Alex M., Szlago, Marina, Metman, Leo Verhagen

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Myoclonus and angiokeratomas in adult galactosialidosis by Abaroa, Luz, Garretto, Nelida S, Arakaki, Tomoko, Kauffman, Marcelo, Moron, Dolores G, Figueredo, Alex M, Szlago, Marina, Metman, Leo Verhagen

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