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Adult-onset methylenetetrahydrofolate reductase deficiency.
Vieira D, Florindo C, Tavares de Almeida I, Macário MC. Vieira D, et al. Among authors: florindo c. BMJ Case Rep. 2020 Mar 10;13(3):e232241. doi: 10.1136/bcr-2019-232241. BMJ Case Rep. 2020. PMID: 32161077 Free PMC article.
Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort.
Pinto PL, Câmara B, Florindo C, Loureiro RS, Jardim I, Sousa C, Vilarinho L, Janeiro P, Tavares de Almeida I, Gaspar A. Pinto PL, et al. Among authors: florindo c. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122946. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711119
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: florindo c. 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.
19 results