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Memorias del Instituto de Investigaciones en Ciencias de la Salud

On-line version ISSN 1812-9528

Abstract

QUEIRUGA, G et al. National System of Newborn Screening in Uruguay. Mem. Inst. Investig. Cienc. Salud [online]. 2011, vol.9, n.2, pp. 72-77. ISSN 1812-9528.

ABSTRACT In the 60’s, it was conceived the idea of detecting preventable diseases, modifying environmental factors to attenuate the disease natural course. In Latin America, many countries started their programs in the 90’s and Uruguay was one of them. Nowadays, the National Newborn Screening Program is a reality in this country. The detection of four diseases is mandatory as well as hearing defects. There is also an ongoing pilot program using mass spectrometry to detect 20 diseases: aminoacidopathies, beta-oxidation defects and organic acidemias. This work presents the algorithms used and the results obtained in our country

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