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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: florindo c. Gene. 2016 Oct 15;591(2):417-24. doi: 10.1016/j.gene.2016.06.041. Epub 2016 Jun 22. Gene. 2016. PMID: 27343776
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family.
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: florindo c. Data Brief. 2016 Aug 20;9:68-77. doi: 10.1016/j.dib.2016.08.029. eCollection 2016 Dec. Data Brief. 2016. PMID: 27656664 Free PMC article.
The interpretation and discussion of these data, along with further extensive experiments concerning the origin of this altered gene expression and its potential therapeutic consequences, can be found in "Complex genetic findings in a female patient with pyruvate dehydrogenase co …
The interpretation and discussion of these data, along with further extensive experiments concerning the origin of this altered gene express …
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.
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.
60 results