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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Subject Newborn Screening
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) | | Nov-2011 | 3-Methylcrotonylglycinuria: a new common mutation in the Portuguese population? | Fonseca, Helena; Sousa, Carmen; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Vilarinho, Laura |
| 2011 | Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project | McHugh, D.M.; Cameron, C.A.; Abdenur, J.E.; Vilarinho, L.; Zakowicz, W.M.; et al. |
| Nov-2011 | MAT I/III deficiency in Portugal: high frequency of R264H mutation in a small area of Douro high lands | Marcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Lopes, Lurdes; Martins, Esmeralda; Vilarinho, Laura |
Showing results 1 to 3 of 3
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