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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: sousa c. 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: sousa c. Rev Esp Salud Publica. 2021 Jan 26;95:e202101005. Rev Esp Salud Publica. 2021. PMID: 33496269 Free article. Spanish.
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: sousa c. Biomedicines. 2021 May 4;9(5):507. doi: 10.3390/biomedicines9050507. Biomedicines. 2021. PMID: 34064479 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: sousa 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
Pilot Study on Newborn Screening for Spinal Muscular Atrophy.
Fonseca H, Ribeiro D, Guimarães F, Pinto C, Marcão A, Sousa C, Carvalho I, Lopes L, Rodrigues D, Rocha H, Vilarinho L. Fonseca H, et al. Among authors: sousa c. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122955. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711122
1,598 results