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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: teles el. 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
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: teles el. 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
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: teles el. 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
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: teles el. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
38 results