Carmen V.S. Sousa

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The Portuguese Neonatal Screening Programme (PNSP) was started in 1979 for phenylketonuria (2,590,700 newborns screened; prevalence 1:11,031) and, shortly after, for congenital hypothyroidism (2,558,455 newborns screened; prevalence 1:3,174). In 2004, expanded neonatal screening was implemented in the National Laboratory. The programme is not mandatory and(More)
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(More)
Souza M.B., Mota Filho A.C., Sousa C.V.S., Monteiro C.L.B., Carvalho G.G., Pinto J.N., Linhares J.C.S. & Silva L.D.M. 2014. Triplex Doppler evaluation of the testes in dogs of different sizes. Pesquisa Veterinária Brasileira 34(11):1135-1140. Laboratório de Reprodução de Carnívoros, Universidade Estadual do Ceará, Campus do Itaperi, Av. Doutor Silas Munguba(More)
Objective Birth prevalence of Cobalamin (Cbl) C or D defects in Portugal is an estimated 1:85,000, one of the highest worldwide. We compared the genotype/phenotype of patients identified with CblC or CblD before and after the implementation of expanded newborn screening. Methods Twenty-five Portuguese CblC/D patients, 14 symptomatic and 11 identified(More)
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