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Role of RNA in Molecular Diagnosis of MADD Patients.
Nogueira C, Silva L, Marcão A, Sousa C, Fonseca H, Rocha H, Campos T, Teles EL, Rodrigues E, Janeiro P, Gaspar A, Vilarinho L. Nogueira C, et al. Among authors: fonseca h. Biomedicines. 2021 May 4;9(5):507. doi: 10.3390/biomedicines9050507. Biomedicines. 2021. PMID: 34064479 Free PMC article.
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
Ventura FV, Leandro P, Luz A, Rivera IA, Silva MF, Ramos R, Rocha H, Lopes A, Fonseca H, Gaspar A, Diogo L, Martins E, Leão-Teles E, Vilarinho L, Tavares de Almeida I. Ventura FV, et al. Among authors: fonseca h. Clin Genet. 2014 Jun;85(6):555-61. doi: 10.1111/cge.12227. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829193
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Ferreira F, Azevedo L, Neiva R, Sousa C, Fonseca H, Marcão A, Rocha H, Carmona C, Ramos S, Bandeira A, Martins E, Campos T, Rodrigues E, Garcia P, Diogo L, Ferreira AC, Sequeira S, Silva F, Rodrigues L, Gaspar A, Janeiro P, Amorim A, Vilarinho L. Ferreira F, et al. Among authors: fonseca h. Mol Genet Genomic Med. 2021 Mar;9(3):e1559. doi: 10.1002/mgg3.1559. Epub 2021 Jan 19. Mol Genet Genomic Med. 2021. PMID: 33465300 Free PMC article.
[Portuguese Newborn Screening Program.].
Rocha H, Marcão A, Sousa C, Fonseca H, Lopes L, Carvalho I, Vilarinho L. Rocha H, et al. Among authors: fonseca h. Rev Esp Salud Publica. 2021 Jan 26;95:e202101005. Rev Esp Salud Publica. 2021. PMID: 33496269 Free article. Spanish.
213 results