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Leukocyte Imbalances in Mucopolysaccharidoses Patients Lopes, 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
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COVID-19 RELATED CHANGES IN OUTPATIENT CPAP SET-UP PATHWAYS FOR OSA ARE LINKED WITH DECREASED 30-DAY CPAP USAGE Turnbull, C. D.; Allen, M.; Appleby, J.; Brown, R.; Bryan, N.; Cooper, A.; Cooper, B.; Davidson, J.; Farley, H.; Gaspar, A.; Gibbons, G.; Gillooly, C.; Gray, B.; Hill, G.; Kendrick, A.; Marsh, B.; McMillan, A.; Page, J.; Pepperell, J.; Quinnell, T.; Rogers, C.; Sexton, J.; Shepherd, N.; Steier, J.; Stockley, J.; Stradling, J.; West, S.; Woroszyl, A.; Wright, S.; Nickol, A. 分享 收藏
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Role of RNA in Molecular Diagnosis of MADD Patients Nogueira, Celia; Silva, Lisbeth; Marcao, Ana; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Campos, Teresa; Teles, Elisa Leao; Rodrigues, Esmeralda; Janeiro, Patricia; Gaspar, Ana; Vilarinho, Laura 分享 收藏
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience Quelhas, 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
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Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction Nogueira, Celia; Silva, Lisbeth; Pereira, Cristina; Vieira, Luis; Teles, Elisa Leao; Rodrigues, Esmeralda; Campos, Teresa; Janeiro, Patricia; Gaspar, Ana; Dupont, Juliette; Bandeira, Anabela; Martins, Esmeralda; Magalhaes, Marina; Sequeira, Silvia; Vieira, Jose Pedro; Santos, Helena; Vilarinho, Silvia; Vilarinho, Laura 分享 收藏
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STUDY OF RARE FAMILIAL MONOGENIC DYSLIPIDAEMIAS IN PORTUGAL Alves, A. C.; Graca, R.; Raimundo, A.; Sequeira, S.; Moldovan, O.; Lobarinhas, G.; Mansilha, H.; Duarte, S.; Gaspar, A.; Guerra, A.; Travessa, A.; Ferreira, A.; Bourbon, M. 分享 收藏
Functional correction by antisense therapy of a splicing mutation in the GALT gene Coelho, Ana I.; Lourenco, Silvia; Trabuco, Matilde; Silva, Maria Joao; Oliveira, Anabela; Gaspar, Ana; Diogo, Luisa; de Almeida, Isabel Tavares; Vicente, Joao B.; Rivera, Isabel 分享 收藏
Assessment of Water Quality in a Border Region Between the Atlantic Forest and an Urbanised Area in Rio de Janeiro, Brazil Miagostovich, Marize Pereira; Guimares, Flavia Ramos; Vieira, Carmen Baur; Fumian, Tulio Machado; da Gama, Nilson Porto; Victoria, Matias; de Oliveira, Jaqueline Mendes; de Oliveira Mendes, Anna Carolina; Coimbra Gaspar, Ana Maria; Gagliardi Leite, Jose Paulo 分享 收藏
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Incidence of maple syrup urine disease in Portugal 葡萄牙枫糖浆尿病的发病率 Quental, Sofia; Vilarinho, Laura; Martins, Esmeralda; Teles, Elisa Leao; Rodrigues, Esmeralda; Diogo, Luisa; Garcia, Paula; Eusebio, Filomena; Gaspar, Ana; Sequeira, Silvia; Amorim, Antonio; Prata, Maria Joao 分享 收藏