Carmen Sousa
Intelligence and National Security Alliance
Network
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Publication
Featured researches published by Carmen Sousa.
Gene | 2016
Helena Fonseca; Luísa Azevedo; Catarina Serrano; Carmen Sousa; Ana Marcão; Laura Vilarinho
The deficiency of 3-methycrotonyl-CoA carboxylase (3-MCC; EC 6.4.1.4) is an autosomal recessive organic aciduria that is included in the newborn screening programs of several countries. This study reports data mainly obtained from the Portuguese newborn screening program collected over a ten-year period. Analysis of the MCCC1 and MCCC2 genes yielded 26 previously unreported mutations and a variant of clinically unknown significance. These mutations are discussed in the context of their likely impact on the function of the 3-MCC enzyme, with a view to exploring whether a phenotype-genotype correlation might be discerned. Further, these mutations were analysed in the context of what is known of the MCCC1 and MCCC2 mutational spectra, information that will be useful in both clinical and laboratory practice.
Journal of Inherited Metabolic Disease | 2010
Laura Vilarinho; Hugo Rocha; Carmen Sousa; Ana Marcão; Helena Fonseca; Mário Bogas; Rui Vaz Osório
Acta Pediátrica Portuguesa | 2006
Laura Vilarinho; Hugo Rocha; Ana Marcão; Carmen Sousa; Helena Fonseca; Mário Bogas; Rui Vaz Osório
9th ISNS European Neonatal Screening, 12-15th October 2014 | 2014
Ana Marcão; Lurdes Lopes; Ivone Carvalho; Carmen Sousa; Helena Fonseca; Hugo Rocha; Celeste Barreto; Laura Vilarinho
14th International Symposium of the Portuguese Society for Metabolic Disorders, 15t-17 March 2018 | 2018
Ana Marcão; Ivone Carvalho; Carmen Sousa; Helena Fonseca; Hugo Alexandre Oliveira Rocha; Lurdes Lopes; Raquel Neiva; Laura Vilarinho
XLVI Conferências de Genética Doutor Jacinto Magalhães "Neurogenética Pediátrica", 3 fevereiro 2017 | 2017
Lurdes Lopes; Carmen Sousa; Helena Fonseca; Ivone Carvalho; Ana Marcão; Hugo Alexandre Oliveira Rocha; Laura Vilarinho
XII Congreso Nacional de Errores Congénitos del Metabolismo, pañola para el Estudio de Errores Congénitos del Metabolismo (AECOM), 18-20 octubre 2017 | 2017
Hugo Alexandre Oliveira Rocha; Célia Nogueira; Esmeralda Martins; Esmeralda Rodrigues; Miguel Leão; Carmen Sousa; Helena Fonseca; Ana Marcão; Ana Gaspar; Otília Brandão; Helena Santos; Teresa Coelho; J. Miguel Ribeiro; Laura Vilarinho
Boletim Epidemiológico Observações | 2017
Ana Marcão; Hugo Alexandre Oliveira Rocha; Carmen Sousa; Helena Fonseca; Ivone Carvalho; Lurdes Lopes; Laura Vilarinho
NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL | 2016
Lurdes Lopes; Ana Marcão; Ivone Carvalho; Carmen Sousa; Helena Fonseca; Hugo Rocha; Laura Vilarinho
Boletim Epidemiológico Observações | 2016
Hugo Alexandre Oliveira Rocha; Carmen Sousa; Helena Fonseca; Ana Marcão; Lurdes Lopes; Ivone Carvalho; Laura Vilarinho
Collaboration
Dive into the Carmen Sousa's collaboration.
