Novel MTO1 mutations associated with an intrafamilial phenotypic variability by Catarina Maria Almeida, Esmeralda Rodrigues, Teresa Almeida Campos, Laura Vilarinho, Elisa Leão Teles

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Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral Deposits by Augusto Magalhães, Margarida Ribeiro, Jorge Meira, Ana Filipa Moleiro, Esmeralda Rodrigues, Elisa Leão-Teles

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Deveremos avaliar a pressão arterial no recém‐nascido? by Inês Alves, Tânia Martins, Ana Luísa Neves, Esmeralda Rodrigues, Ana Teixeira, Caldas Afonso, Helena Pinto

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Visual impairment in mucopolysaccharidosis VI by Augusto Monteiro Magalhães, Ana Filipa Moleiro, Esmeralda Rodrigues, Sérgio Castro, José Fonseca, Elisa Leão‐Teles

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Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies by Augusto Magalhães, Ana Maria Cunha, Rodrigo Vilares-Morgado, Elisa Leão-Teles, Esmeralda Rodrigues, Manuel Falcão, Ângela Carneiro, Jorge Breda, Fernando Falcão-Reis

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Role of RNA in Molecular Diagnosis of MADD Patients by Célia Nogueira, Lisbeth Silva, Ana Marcão, Carmen Sousa, Helena Fonseca, Hugo Rocha, Teresa Campos, Elisa Leão Teles, Esmeralda Rodrigues, Patrícia Janeiro, Ana Gaspar, Laura Vilarinho

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SLC37A4‐CDG: Second patient by Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken

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Leukocyte Imbalances in Mucopolysaccharidoses Patients by Nuno Lopes, Maria L. Maia, Cátia S. Pereira, Inês Mondragão-Rodrigues, Esmeralda Martins, Rosa Ribeiro, Ana Gaspar, Patrício Aguiar, Paula Garcia, Maria Teresa Cardoso, Esmeralda Rodrigues, Elisa Leão-Teles, Roberto Giugliani, Maria F. Coutinho, Sandra Alves, M. Fátima Macedo

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Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses by Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho

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

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