Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies von Pessoa, A. L. S, Martins, A. M, Ribeiro, E. M, Specola, N, Chiesa, A, Vilela, D, Jurecki, E, Mesojedovas, D, Schwartz, I. V. D

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Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002-2014) von de Bitencourt, F H, Schwartz, I V D, Vianna, F S L

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Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis von Dornelles, A D, Junges, A P P, Krug, B, Gonçalves, C, de Oliveira Junior, H A, Schwartz, I V D

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Brain MRI in mucopolysaccharidosis Effect of aging and correlation with biochemical findings von VEDOLIN, L, SCHWARTZ, I. V. D, KOMLOS, M, SCHUCH, A, AZEVEDO, A. C, VIEIRA, T, MAEDA, F. K, MARQUES DA SILVA, A. M, GIUGLIANI, R

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Clinical and biochemical studies in mucopolysaccharidosis type II carriers von Schwartz, I. V. D, Pinto, L. L. C, Breda, G, Lima, L, Ribeiro, M. G, Mota, J. G, Acosta, A. X, Correia, P, Horovitz, D. D. G, Porciuncula, C. G. G, Lipinski-Figueiredo, E, Fett-Conte, A. C, Oliveira Sobrinho, R. P, Norato, D. Y. J, Paula, A. C, Kim, C. A, Duarte, A. R, Boy, R, Leistner-Segal, S, Burin, M. G, Giugliani, R

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Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II von Vedolin, L, Schwartz, I.V.D, Komlos, M, Schuch, A, Puga, A.C, Pinto, L.L.C, Pires, A.P, Giugliani, R

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Universal newborn screening: A roadmap for action von Howson, C.P., Cedergren, B., Giugliani, R., Huhtinen, P., Padilla, C.D., Palubiak, C.S., Santos, M.D., Schwartz, I.V.D., Therrell, B.L., Umemoto, A., Wang, J., Zeng, X., Zhao, X., Zhong, N., McCabe, E.R.B.

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CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy von Jardim, L., Vedolin, L., Schwartz, I. V. D., Burin, M. G., Cecchin, C., Kalakun, L., Matte, U., Aesse, F., Pitta‐Pinheiro, C., Marconato, J., Giugliani, R.

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Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients von Vieira, Neto, E, Maia, Filho, H S, Monteiro, C B, Carvalho, L M, Tonon, T, Vanz, A P, Schwartz, I V D, Ribeiro, M G

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Successful domino liver transplantation in maple syrup urine disease using a related living donor von Feier, F H, Miura, I K, Fonseca, E A, Porta, G, Pugliese, R, Porta, A, Schwartz, I V D, Margutti, A V B, Camelo, Jr, J S, Yamaguchi, S N, Taveira, A T, Candido, H, Benavides, M, Danesi, V, Guimaraes, T, Kondo, M, Chapchap, P, Neto, J Seda

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Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients von Brusius-Facchin, A.C., Schwartz, I.V.D., Zimmer, C., Ribeiro, M.G., Acosta, A.X., Horovitz, D., Monlleó, I.L., Fontes, M.I.B., Fett-Conte, A., Sobrinho, R.P. Oliveira, Duarte, A.R., Boy, R., Mabe, P., Ascurra, M., de Michelena, M., Tylee, K.L., Besley, G.T.N., Garreton, M.C.V., Giugliani, R., Leistner-Segal, S.

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Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene von Cury, G.K., Matte, U., Artigalás, O., Alegra, T., Velho, R.V., Sperb, F., Burin, M.G., Ribeiro, E.M., Lourenço, C.M., Kim, C.A., Valadares, E.R., Galera, M.F., Acosta, A.X., Schwartz, I.V.D.

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Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients von Petry, M. F. G., Nonemacher, K., Sebben, J. C., Schwartz, I. V. D., Azevedo, A. C. M., Burin, M. G., De Rezende, A. R., Kim, C. A., Giugliani, R., Leistner‐Segal, S.

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Evidence that l-Carnitine and Selenium Supplementation Reduces Oxidative Stress in Phenylketonuric Patients von Sitta, A., Vanzin, C. S., Biancini, G. B., Manfredini, V., de Oliveira, A. B., Wayhs, C. A. Y., Ribas, G. O. S., Giugliani, L., Schwartz, I. V. D., Bohrer, D., Garcia, S. C., Wajner, M., Vargas, C. R.

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Severity score system for progressive myelopathy: development and validation of a new clinical scale von Castilhos, R M, Blank, D, Netto, C B O, Souza, C F M, Fernandes, L N T, Schwartz, I V D, Giugliani, R, Jardim, L B

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Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype von Sperb-Ludwig, F., Alegra, T., Velho, R.V., Ludwig, N., Kim, C.A., Kok, F., Kitajima, J.P., van Meel, E., Kornfeld, S., Burin, M.G., Schwartz, I.V.D.

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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey von 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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Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report von Burin, M. G., Ribeiro, E., Mari, J. de, Schwartz, I. V. D., Martins, M., Giugliani, R.

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Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site von Velho, Renata Voltolini, De Pace, Raffaella, Klünder, Sarah, Sperb-Ludwig, Fernanda, Lourenço, Charles Marques, Schwartz, Ida V D, Braulke, Thomas, Pohl, Sandra

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Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177–183 von Howson, C.P., Cedergren, B., Giugliani, R., Huhtinen, P., Padilla, C.D., Palubiak, C.S., Santos, M.D., Schwartz, I.V.D., Therrell, B.L., Umemoto, A., Wang, J., Zeng, X., Zhao, X., Zhong, N., McCabe, E.R.B.

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