CT hypodensity on cerebral white matter in Wilson's disease by Laura B. Jardim, Aníbal Carneiro, Suzana Hansel, Carlos R. M. Rieder, Roberto Giugliani

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Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review by Roberto Giugliani, Faryn Solomon, Hani Kushlaf, Erica Wright, Tmirah Haselkorn, Edmar Zanoteli, Benedikt Schoser

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Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia Detecção de doenças metabólicas em pacientes de alto-risco: estudo piloto em Salvador, Bahi... by Maria Betânia Pereira, Gildásio Carvalho da Conceição, Janice C. Coelho, Moacir Wajner, Roberto Giugliani

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Infections in temporary access for hemodialysis in chronic renal failure patients / Infecção em acesso temporário para hemodiálise em pacientes com insuficiência... by Arion Saraiva Reisdorfer, Roberto Giugliani, Viviane de Araújo Gouveia, Emmanuela Kethully Mota dos Santos, José Jairo Teixeira da Silva

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Infections in temporary access for hemodialysis in chronic renal failure patients / Infecção em acesso temporário para hemodiálise em pacientes com insuficiência... by Arion Saraiva Reisdorfer, Roberto Giugliani, Viviane de Araújo Gouveia, Emmanuela Kethully Mota dos Santos, José Jairo Teixeira da Silva

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A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) by Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson, Matthias Gautschi, Peter Cornelisse, Luba Trokan, Barbara Schwierin, Marianne Rohrbach

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Síndrome de borjeson-forssman-lehmann: relato de um caso by Marli Wojciechowski, Carlos Severo Dutra-Filho, Ana Cristina Pereira da Costa, Luiz Fernando Laser, Roberto Giugliani, Newra Tellechea Rotta, Lygia Ohlweiler

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Encapsulated Whole Bone Marrow Cells Improve Survival in Wistar Rats after 90% Partial Hepatectomy by Carolina Uribe-Cruz, Carlos Oscar Kieling, Mónica Luján López, Alessandro Osvaldt, Gustavo Ochs de Muñoz, Themis Reverbel da Silveira, Roberto Giugliani, Ursula Matte

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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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Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey by Joseph Muenzer, Hernan Amartino, Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Bianca Link, David Molter, Uma Ramaswami, Maurizio Scarpa, Jaco Botha, Jennifer Audi, Barbara K. Burton

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White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up Lesões da substância branca na doença de Fabry antes e depois da terapia de re... by Laura B. Jardim, Flávio Aesse, Leonardo M. Vedolin, Cláudio Pitta-Pinheiro, João Marconato, Maira G. Burin, Cláudia Cecchin, Cristina B.O. Netto, Ursula S. Matte, Fernanda Pereira, Luciane Kalakun, Roberto Giugliani

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Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy by Uma Ramaswami, Guillem Pintos-Morell, Christoph Kampmann, Kathleen Nicholls, Dau-Ming Niu, Ricardo Reisin, Michael L. West, Christina Anagnostopoulou, Jaco Botha, Dalia Jazukeviciene, Jörn Schenk, Derralynn A. Hughes, Roberto Giugliani

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P224: Clinical outcomes for patients enrolled in the MPS VII disease monitoring program (DMP) by Barbara Burton, Raymond Wang, Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Monica Penon Portmann, Esmeralda Oussoren, Esmeralda Martins, Consuelo Durand, Brigitte Chabrol, Joel Hetzer, Jeanne Cohen, J. Lawrence Merritt

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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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ISNS General Guidelines for Neonatal Bloodspot Screening 2025 by Dianne Webster, Amy Gaviglio, Aysha Habib Khan, Mei Baker, David Cheillan, Layachi Chabraoui, Ghassan Abdoh, Juan Cabello, Roberto Giugliani, Dimitris Platis, Jan Østrup, R. Rodney Howell, Peter C. J. I. Schielen, James R. Bonham

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Newborn Intravenous Injection of Liposomal CRISPR/Cas9 Complex Has No Incidence of Off-Targets or Tumors in Mice by Vinícius Monteagudo, Larissa Cristina Barbosa Flores, Melaine Lopes, Flavia Nathiely Silveira Fachel, Giselle Martins, Marina Siebert, Willian da Silva Carniel, Tuane Nerissa Alves Garcez, Helder Ferreira Teixeira, Ursula Matte, Roberto Giugliani, Guilherme Baldo, Édina Poletto, Roselena Silvestri Schuh

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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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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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Clinical trials to gene therapy development and production in Brazil: a review by Jonas Alex Morales Saute, Virginia Picanço-Castro, Ana Carolina de Freitas Lopes, João Batista da Silva Júnior, Johanna Henriques Nehm, Franciele dos Santos Maciel, Ida Vanessa Doederlein Schwartz, Juliana Maria Ferraz Sallum, Margareth Castro Ozelo, Roberto Giugliani, Martin Bonamino, Hilda Petrs-Silva, Guilherme Baldo

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Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome by Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Lillian Gonçalves Campos, Adriana Vanessa Santini Deyl, Maira Graeff Burin, Carmen Regla Vargas, Ursula da Silveira Matte, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Leonardo Modesti Vedolin, Lauro José Gregianin, Laura Bannach Jardim

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