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Year Number of Results
2004 1
2007 2
2008 3
2010 1
2011 2
2013 5
2014 2
2015 2
2016 1
2017 2
2018 2
2019 10
2020 9
2021 8
2022 3
2023 5
2024 2

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54 results

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Page 1
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
Giugliani R, Gonzalez-Meneses A, Scarpa M, Burton B, Wang R, Martins E, Oussoren E, Hennermann JB, Chabrol B, Grant CL, Sun A, Durand C, Hetzer J, Malkus B, Marsden D, Merritt Ii JL. Giugliani R, et al. Among authors: martins e. Orphanet J Rare Dis. 2024 May 7;19(1):189. doi: 10.1186/s13023-024-03176-z. Orphanet J Rare Dis. 2024. PMID: 38715031
Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients.
Carvalho S, Santos JI, Moreira L, Duarte AJ, Gaspar P, Rocha H, Encarnação M, Ribeiro D, Barbosa Almeida M, Gonçalves M, David H, Matos L, Amaral O, Diogo L, Ferreira S, Santos C, Martins E, Prata MJ, Pereira de Almeida L, Alves S, Coutinho MF. Carvalho S, et al. Among authors: martins e. Int J Mol Sci. 2024 Mar 21;25(6):3546. doi: 10.3390/ijms25063546. Int J Mol Sci. 2024. PMID: 38542525 Free PMC article.
Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses.
Carvalho S, Moreira L, Santos JI, Gaspar P, Gonçalves M, Matos L, David H, Encarnação M, Ribeiro D, Duarte AJ, Amaral O, Rocha H, Diogo L, Ferreira S, Santos C, Martins E, Neuparth T, Soares J, Ribeiro M, Ribeiro Pinho B, Oliveira N, Ascenção Oliveira JM, Prata MJ, Santos M, Alves S, Coutinho MF. Carvalho S, et al. Among authors: martins e. Endocr Metab Immune Disord Drug Targets. 2023 Nov 2. doi: 10.2174/0118715303277318231024055425. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37937567
Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.
Pereira Â, Diogo da Silva J, Soares AR, Guimas A, Rocha S, Cardoso M, Garrido C, Azevedo Soares C, Nunes I, Maria Fortuna A, Quelhas D, Figueiroa S, Ribeiro R, Santos M, Martins E, Tkachenko N. Pereira Â, et al. Among authors: martins e. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122936. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711120
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
Baldo MS, Nogueira C, Pereira C, Janeiro P, Ferreira S, Lourenço CM, Bandeira A, Martins E, Magalhães M, Rodrigues E, Santos H, Ferreira AC, Vilarinho L. Baldo MS, et al. Among authors: martins e. Genes (Basel). 2023 Jul 27;14(8):1536. doi: 10.3390/genes14081536. Genes (Basel). 2023. PMID: 37628588 Free PMC article.
Leukocyte Imbalances in Mucopolysaccharidoses Patients.
Lopes N, Maia ML, Pereira CS, Mondragão-Rodrigues I, Martins E, Ribeiro R, Gaspar A, Aguiar P, Garcia P, Cardoso MT, Rodrigues E, Leão-Teles E, Giugliani R, Coutinho MF, Alves S, Macedo MF. Lopes N, et al. Among authors: martins e. Biomedicines. 2023 Jun 13;11(6):1699. doi: 10.3390/biomedicines11061699. Biomedicines. 2023. PMID: 37371793 Free PMC article.
54 results