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收藏分享 收藏 Protein intake and prevalence of overweight in patients with phenylketonuria: A 10-year longitudinal study
Rodrigues, Catarina; Barbosa, Catarina Sousa; de Almeida, Manuela Ferreira; Bandeira, Anabela; Martins, Esmeralda; Rocha, Sara; Guimas, Arlindo; Ribeiro, Rosa; Soares, Antonio; Moreira-Rosario, Andre; Dias, Claudia Camila; Macdonald, Anita; Borges, Nuno; Rocha, Julio Cesar 分享 收藏 分享 收藏 Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGPajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin 分享 收藏 分享 收藏 分享 收藏 Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring programGiugliani, Roberto; Gonzalez-Meneses, Antonio; Scarpa, Maurizio; Burton, Barbara; Wang, Raymond; Martins, Esmeralda; Oussoren, Esmeralda; Hennermann, Julia B.; Chabrol, Brigitte; Grant, Christina L.; Sun, Angela; Durand, Consuelo; Hetzer, Joel; Malkus, Betsy; Marsden, Deborah; Merritt II, J. Lawrence 分享 收藏 Early clinical response and continued safety with vestronidase ALFA for the treatment of mucopolysaccharidosis VII (MPS VII)Burton, Barbara; Giugliani, Roberto; Gonzalez-Meneses, Antonio; Grant, Christina Lee; Scarpa, Maurizio; Sun, Angela; Wang, Raymond; Van der Ploeg, Ans; Martins, Esmeralda; Durand, Consuelo; Chabrol, Brigitte; Hetzer, Joel; Malkus, Betsy; Cohen, Jeanne; Marsden, Deborah; Merritt, J. Lawrence, II 分享 收藏 Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type VDa Silva, Jorge Diogo; Pereira, Angela; Soares, Ana Rita; Guimas, Arlindo; Rocha, Sara; Cardoso, Marcio; Garrido, Cristina; Soares, Celia Azevedo; Nunes, Isabel Serra; Fortuna, Ana Maria; Quelhas, Dulce; Figueiroa, Sonia; Ribeiro, Rosa; Santos, Manuela; Martins, Esmeralda; Tkachenko, Nataliya 分享 收藏 Leukocyte Imbalances in Mucopolysaccharidoses PatientsLopes, Nuno; Maia, Maria L.; Pereira, Catia S.; Mondragao-Rodrigues, Ines; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, Patricio; Garcia, Paula; Cardoso, Maria Teresa; Rodrigues, Esmeralda; Leao-Teles, Elisa; Giugliani, Roberto; Coutinho, Maria F. F.; Alves, Sandra; Macedo, M. Fatima 分享 收藏 Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VIILau, Heather A.; Viskochil, David; Tanpaiboon, Pranoot; Gonzalez-Meneses Lopez, Antonio; Martins, Esmeralda; Taylor, Julie; Malkus, Betsy; Zhang, Lin; Jurecka, Agnieszka; Marsden, Deborah 分享 收藏 Assessing the effects of PMM2 variants on protein stabilityQuelhas, D.; Carneiro, J.; Lopes-Marques, M.; Jaeken, J.; Martins, E.; Rocha, J. F.; Carla, S. S. Teixeira; Ferreira, C. R.; Sousa, S. F.; Azevedo, L. 分享 收藏 Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations葡萄牙代谢中心对苯丙酮尿症患者的代谢控制比较了三种不同的建议Kanufre, Viviane; Almeida, Manuela Ferreira; Barbosa, Catarina Sousa; Carmona, Carla; Bandeira, Anabela; Martins, Esmeralda; Rocha, Sara; Guimas, Arlindo; Ribeiro, Rosa; MacDonald, Anita; Pinto, Alex; Rocha, Julio Cesar 分享 收藏 Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published casesRossignol, Francis; Moreno, Marvid S. Duarte; Benoist, Jean-Francois; Boehm, Manfred; Bourrat, Emmanuelle; Cano, Aline; Chabrol, Brigitte; Cosson, Claudine; Diaz, Jose Luis Dapena; D'Harlingue, Arthur; Dimmock, David; Freeman, Alexandra F.; Garcia, Maria Tallon; Garganta, Cheryl; Goerge, Tobias; Halbach, Sara S.; de Laffolie, Jan; Lam, Christina T.; Martin, Ludovic; Martins, Esmeralda; Meinhardt, Andrea; Melki, Isabelle; Ombrello, Amanda K.; Perez, Noemie; Quelhas, Dulce; Scott, Anna; Slavotinek, Anne M.; Soares, Ana Rita; Stein, Sarah L.; Suessmuth, Kira; Thies, Jenny; Ferreira, Carlos R.; Schiff, Manuel 分享 收藏 Congenital Disorders of Glycosylation in Portugal-Two Decades of ExperienceQuelhas, Dulce; Martins, Esmeralda; Azevedo, Luisa; Bandeira, Anabela; Diogo, Luisa; Garcia, Paula; Sequeira, Silvia; Ferreira, Ana Cristina; Teles, Elisa Leao; Rodrigues, Esmeralda; Fortuna, Ana Maria; Mendonca, Carla; Fernandes, Helena Cabral; Medeira, Ana; Gaspar, Ana; Janeiro, Patricia; Oliveira, Anabela; Laranjeira, Francisco; Ribeiro, Isaura; Souche, Erica; Race, Valerie; Keldermans, Liesbeth; Matthijs, Gert; Jaeken, Jaak 分享 收藏 Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results after Two Years of Follow-Up with an Adult TeamPeres, Maria; Almeida, Manuela F.; Pinto, Elia J.; Carmona, Carla; Rocha, Sara; Guimas, Arlindo; Ribeiro, Rosa; Martins, Esmeralda; Bandeira, Anabela; MacDonald, Anita; Rocha, Julio C. 分享 收藏 Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspectivePena, Maria Joao; Pinto, Alex; de Almeida, Manuela Ferreira; de Sousa Barbosa, Catarina; Ramos, Paula Cristina; Rocha, Sara; Guimas, Arlindo; Ribeiro, Rosa; Martins, Esmeralda; Bandeira, Anabela; Dias, Claudia Camila; MacDonald, Anita; Borges, Nuno; Rocha, Julio Cesar 分享 收藏 Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patientsPavlu-Pereira, Hana; Silva, Maria Joao; Florindo, Cristina; Sequeira, Silvia; Ferreira, Ana Cristina; Duarte, Sofia; Rodrigues, Ana Luisa; Janeiro, Patricia; Oliveira, Anabela; Gomes, Daniel; Bandeira, Anabela; Martins, Esmeralda; Gomes, Roseli; Soares, Sergia; Tavares de Almeida, Isabel; Vicente, Joao B.; Rivera, Isabel 分享 收藏 The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII (vol 129, pg 219, 2020)Wang, Raymond Y.; da Silva Franco, Jose Francisco; Lopez-Valdez, Jaime; Martins, Esmeralda; Sutton, Vernon Reid; Whitley, Chester B.; Zhang, Lin; Cimms, Tricia; Marsden, Deborah; Jurecka, Agnieszka; Harmatz, Paul 分享 收藏 
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