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Natural history of three late-diagnosed classic Galactosemia patients.
Quelhas D, Kingma SDK, Jonckheere AI, Smeets-Peels CS, Gomes DC, Duro J, Oliveira A, Matthijs G, Steinbusch LKM, Jaeken J, Rivera I, Rubio-Gozalbo E. Quelhas D, et al. Among authors: oliveira a. Mol Genet Metab Rep. 2024 Jan 23;38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469096 Free PMC article.
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: oliveira a. 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: oliveira a. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
Functional correction by antisense therapy of a splicing mutation in the GALT gene.
Coelho AI, Lourenço S, Trabuco M, Silva MJ, Oliveira A, Gaspar A, Diogo L, Tavares de Almeida I, Vicente JB, Rivera I. Coelho AI, et al. Among authors: oliveira a. Eur J Hum Genet. 2015 Apr;23(4):500-6. doi: 10.1038/ejhg.2014.149. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052314 Free PMC article.
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pavlu-Pereira H, Silva MJ, Florindo C, Sequeira S, Ferreira AC, Duarte S, Rodrigues AL, Janeiro P, Oliveira A, Gomes D, Bandeira A, Martins E, Gomes R, Soares S, Tavares de Almeida I, Vicente JB, Rivera I. Pavlu-Pereira H, et al. Among authors: oliveira a. Orphanet J Rare Dis. 2020 Oct 22;15(1):298. doi: 10.1186/s13023-020-01586-3. Orphanet J Rare Dis. 2020. PMID: 33092611 Free PMC article.
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I. Pinheiro A, et al. Among authors: oliveira a. Gene. 2016 Oct 15;591(2):417-24. doi: 10.1016/j.gene.2016.06.041. Epub 2016 Jun 22. Gene. 2016. PMID: 27343776
Effects of local and systemic treatment with human natural killer-1 mimetic peptide (HNK-1) after ventral root avulsion and reimplantation in mice.
da Silva NS, Lombardi J, Kirchhoff F, Ferreira RS Jr, Barraviera B, de Oliveira ALR, Cartarozzi LP. da Silva NS, et al. Among authors: de oliveira alr. J Venom Anim Toxins Incl Trop Dis. 2024 May 20;30:e20230065. doi: 10.1590/1678-9199-JVATITD-2023-0065. eCollection 2024. J Venom Anim Toxins Incl Trop Dis. 2024. PMID: 38770186 Free PMC article.
8,486 results