X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers by Charles Marques Lourenço, Gustavo Novelino Simão, Antonio Carlos Santos, Wilson Marques Jr

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Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E) by Leandro Calia, Wilson Marques Jr., Silmara P. Gouvea, Charles Marques Lourenço, Acary S. B. de Oliveira

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Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E) Proptose em uma família com a mutacão p16 Leuc-to-Prol no gene PMP22 (CMT1E) by Leandro Calia, Wilson Marques Jr., Silmara P. Gouvea, Charles Marques Lourenço, Acary S. B. de Oliveira

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Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective by Dafne Dain Gandelman Horovitz, André Pessoa, Marcondes Cavalcante França Junior, Roberto Giugliani, Carolina Fischinger Moura de Souza, Emília Katiane Embiruçu, Pedro Braga-Neto, Charles Marques Lourenço

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A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease by Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, André Pessoa, Bibiana Mello de Oliveira

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Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis by Fabiano de Oliveira Poswar, Tamires Silva Alves, Daniel Rocha de Carvalho, Hélio van der Linden, Jr, Charles Marques Lourenço, Dafne Dain Gandelman Horovitz, Anneliese Barth, Carmen Silvia Curiati Mendes, Ana Maria Martins, Roberto Giugliani

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Niemann-Pick disease type C: a case series of Brazilian patients by Paulo José Lorenzoni, Elaine Cardoso, Ana C. S. Crippa, Charles Marques Lourenço, Fernanda Timm Seabra Souza, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Salmo Raskin, Isac Bruck, Cláudia S. K. Kay, Rosana H. Scola, Lineu C.Werneck, Hélio A. G. Teive

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Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. by Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco, Nadia Passon, Isabella Moroni, Graziella Uziel, Antonella Pettinari, Franco Stanzial, Raquel Dodelson de Kremer, Nydia Beatriz Azar, Filiz Hazan, Mirella Filocamo, Bruno Bembi, Andrea Dardis

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Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards by Roberto Giugliani, Juan Politei, Ana Martins, Nelson Murillo, Paula Rozenfeld, Mauricio Lopera, Sergio Salgado, Gustavo Quirós, Charles Marques Lourenço, Osvaldo Vieira, Hernán Amartino, Fernando Perretta, Sandra Marques e Silva, Joseph Brooks, Laura Titievsky, Jacobo Villalobos, Cassiano Braga, Harris A. Peñaranda

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. by Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

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