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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: gomes d, gomes r. 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.
Follow-up of Patients with Hereditary Metabolic Diseases during the 3 Years of the Pandemic in the Reference Center for Hereditary Metabolism Diseases of the Centro Hospitalar Universitário Lisboa Norte.
Belo A, Gomes D, Nunes P, Oliveira A. Belo A, et al. Among authors: gomes d. Endocr Metab Immune Disord Drug Targets. 2023 Dec 13. doi: 10.2174/0118715303279331231123050015. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 38093446
From skin lesions to tyrosinemia type II diagnosis.
da Silva ISF, Sopa I, Gomes D, Peixoto L, Oliveira A. da Silva ISF, et al. Among authors: gomes d. J Inherit Metab Dis. 2024 Sep;47(5):1107-1108. doi: 10.1002/jimd.12720. Epub 2024 Feb 26. J Inherit Metab Dis. 2024. PMID: 38408363 No abstract available.
[Diagnosis recommendations for late-onset Pompe disease].
Brito-Avô L, Alves JD, Costa JM, Valverde A, Santos L, Araújo F, Aguiar P, Marinho A, Oliveira A, Gomes D. Brito-Avô L, et al. Among authors: gomes d. Acta Med Port. 2014 Jul-Aug;27(4):525-9. Epub 2014 Aug 29. Acta Med Port. 2014. PMID: 25203965 Free article. Portuguese.
Acute Myocarditis Following mRNA COVID-19 Vaccine.
Gomes DA, Santos RR, Freitas P, Paiva MS, Ferreira J, Trabulo M. Gomes DA, et al. Arq Bras Cardiol. 2022 Apr;118(4):783-786. doi: 10.36660/abc.20210469. Arq Bras Cardiol. 2022. PMID: 35508057 Free PMC article. English, Portuguese. No abstract available.
An Incidental Finding of a Cardiac Sarcoma.
Santos RR, Abecasis J, Gomes DA, Paiva MS, Rocha B, Ribeiras R, Freitas P, Abecasis M, Trabulo M. Santos RR, et al. Arq Bras Cardiol. 2022 Aug;119(2):349-352. doi: 10.36660/abc.20210703. Arq Bras Cardiol. 2022. PMID: 35946698 Free PMC article. English, Portuguese. No abstract available.
1,130 results