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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: rodrigues e. Biomedicines. 2023 Jun 13;11(6):1699. doi: 10.3390/biomedicines11061699. Biomedicines. 2023. PMID: 37371793 Free PMC article.
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Quental S, Macedo-Ribeiro S, Matos R, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Furtado F, Lança I, Amorim A, Prata MJ. Quental S, et al. Among authors: rodrigues e. Mol Genet Metab. 2008 Jun;94(2):148-56. doi: 10.1016/j.ymgme.2008.02.008. Epub 2008 Apr 2. Mol Genet Metab. 2008. PMID: 18378174
Incidence of maple syrup urine disease in Portugal.
Quental S, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Amorim A, Prata MJ. Quental S, et al. Among authors: rodrigues e. Mol Genet Metab. 2010 Aug;100(4):385-7. doi: 10.1016/j.ymgme.2010.04.007. Epub 2010 Apr 22. Mol Genet Metab. 2010. PMID: 20466570
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
Coelho AI, Ramos R, Gaspar A, Costa C, Oliveira A, Diogo L, Garcia P, Paiva S, Martins E, Teles EL, Rodrigues E, Cardoso MT, Ferreira E, Sequeira S, Leite M, Silva MJ, de Almeida IT, Vicente JB, Rivera I. Coelho AI, et al. Among authors: rodrigues e. J Inherit Metab Dis. 2014 Jan;37(1):43-52. doi: 10.1007/s10545-013-9623-1. Epub 2013 Jun 8. J Inherit Metab Dis. 2014. PMID: 23749220
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 C, Silva L, Pereira C, Vieira L, Leão Teles E, Rodrigues E, Campos T, Janeiro P, Gaspar A, Dupont J, Bandeira A, Martins E, Magalhães M, Sequeira S, Vieira JP, Santos H, Vilarinho S, Vilarinho L. Nogueira C, et al. Among authors: rodrigues e. Mitochondrion. 2019 Jul;47:309-317. doi: 10.1016/j.mito.2019.02.006. Epub 2019 Mar 1. Mitochondrion. 2019. PMID: 30831263
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients.
Pereira CS, Pérez-Cabezas B, Ribeiro H, Maia ML, Cardoso MT, Dias AF, Azevedo O, Ferreira MF, Garcia P, Rodrigues E, Castro-Chaves P, Martins E, Aguiar P, Pineda M, Amraoui Y, Fecarotta S, Leão-Teles E, Deng S, Savage PB, Macedo MF. Pereira CS, et al. Among authors: rodrigues e. Front Immunol. 2019 Jun 4;10:1264. doi: 10.3389/fimmu.2019.01264. eCollection 2019. Front Immunol. 2019. PMID: 31214199 Free PMC article.
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Quelhas D, et al. Among authors: rodrigues e. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Ferreira F, Azevedo L, Neiva R, Sousa C, Fonseca H, Marcão A, Rocha H, Carmona C, Ramos S, Bandeira A, Martins E, Campos T, Rodrigues E, Garcia P, Diogo L, Ferreira AC, Sequeira S, Silva F, Rodrigues L, Gaspar A, Janeiro P, Amorim A, Vilarinho L. Ferreira F, et al. Among authors: rodrigues l, rodrigues e. Mol Genet Genomic Med. 2021 Mar;9(3):e1559. doi: 10.1002/mgg3.1559. Epub 2021 Jan 19. Mol Genet Genomic Med. 2021. PMID: 33465300 Free PMC article.
1,470 results