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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: soares s. 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.
Harlequin syndrome in children: secondary until proven otherwise.
Sousa Dias M, Meneses M, Barroca Macedo R, Soares S. Sousa Dias M, et al. Among authors: soares s. BMJ Case Rep. 2023 Oct 12;16(10):e257719. doi: 10.1136/bcr-2023-257719. BMJ Case Rep. 2023. PMID: 37827712 No abstract available.
A Challenging Case: Botulism in a Toddler.
Castro C, Machado Morais J, Correia AL, Almeida R, Soares S. Castro C, et al. Among authors: soares s. Cureus. 2023 Dec 4;15(12):e49924. doi: 10.7759/cureus.49924. eCollection 2023 Dec. Cureus. 2023. PMID: 38174186 Free PMC article.
Cerebral venous thrombosis in adolescence: Looking beyond the obvious.
Gomes SM, Figueiredo R, Morais R, Soares S, Fonseca J, Melo C, Sampaio M, Sousa R. Gomes SM, et al. Among authors: soares s. Int J Pediatr Adolesc Med. 2022 Dec;9(4):186-189. doi: 10.1016/j.ijpam.2022.09.001. Epub 2022 Sep 29. Int J Pediatr Adolesc Med. 2022. PMID: 36937325 Free PMC article.
921 results