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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.
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
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.
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
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
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.
Biological silage from tambaqui (Colossoma macropomum) by-products on the productive performance, hematological parameters and egg quality of older commercial hens.
Guimarães CC, Nóbrega TC, de Almeida Santos AN, Barai AA, Dos Santos Mourão L, da Silva Gomes MF, de Souza Ferreira W, de Lima Chaves FA, da Silva Junior JL, de Freitas Mendonça MA, da Silva AJI, Rufino JPF, de Oliveira AT. Guimarães CC, et al. Among authors: de oliveira at. Trop Anim Health Prod. 2025 Jan 8;57(1):20. doi: 10.1007/s11250-024-04273-8. Trop Anim Health Prod. 2025. PMID: 39777578
8,932 results