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1 Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations [期刊论文]

来源：International Journal of Neonatal Screening , 2015

作者:Jana Heringer;Nikolas Boy;Peter Burgard;等

关键词:glutaric aciduria type I;newborn screening;...

使用许可:CC BY

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2 The Story of Biotinidase Deficiency and Its Introduction into Newborn Screening: The Role of Serendipity [期刊论文]

来源：International Journal of Neonatal Screening , 2015

作者:Barry Wolf

关键词:biotinidase deficiency;biotinidase;...

使用许可:CC BY

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3 Influence of Hematocrit and Total-Spot Volume on Performance Characteristics of Dried Blood Spots for Newborn Screening [期刊论文]

来源：International Journal of Neonatal Screening , 2015

作者:Elizabeth M. Hall, Sharon R. Flores, Vໜtor R. De Jesús

关键词:dried blood spots;newborn screening;...

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4 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges [期刊论文]

来源：International Journal of Neonatal Screening , 2015

作者:Esther M. Maier

关键词:medium-chain acyl-CoA dehydrogenase;neonatal screening;...

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5 Improved Identification of Partial Biotinidase Deficiency by Newborn Screening Using Age-Related Enzyme Activity Cutoffs: Reduction of the False-Positive Rate [期刊论文]

来源：International Journal of Neonatal Screening , 2015

作者:Nicole VanVleck;Barry Wolf;Mary Seeterlin;等

关键词:biotinidase deficiency;partial biotinidase deficiency;...

使用许可:CC BY

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6 Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders [期刊论文]

来源：International Journal of Neonatal Screening , 2015

作者:Véronique Rﳾnacht, Johannes Hrle

关键词:newborn screening;urea cycle disorders;...

使用许可:CC BY

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