Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup... by K. Fuenzalida, A. Valiente, A. Faundez, P. Guerrero, V. Soto, M.J. Leal-Witt, J.F. Cabello, V. Cornejo

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Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism by Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang

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Development of Strategies to Decrease False Positive Results in Newborn Screening by Sabrina Malvagia, Giulia Forni, Daniela Ombrone, Giancarlo la Marca

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Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns by Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes

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Newborn Screening for Fabry Disease: Current Status of Knowledge by Vincenza Gragnaniello, Alessandro P. Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto B. Burlina

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The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism by Dimitar K. Gavrilov, Amy L. Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo

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Use of Molecular Genetic Analyses in Danish Routine Newborn Screening by Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen

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Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience by Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique P Germain, Alberto B Burlina

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Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature by Vincenza Gragnaniello, Daniela Gueraldi, Laura Rubert, Francesca Manzoni, Chiara Cazzorla, Antonella Giuliani, Giulia Polo, Leonardo Salviati, Alberto Burlina

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Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism by Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu

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The modern face of newborn screening by Yin-Hsiu Chien, Wuh-Liang Hwu

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Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy by Alberto B. Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati, Alessandro P. Burlina

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Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte by Shane C. Quinonez, Andrea H. Seeley, Mary Seeterlin, Eleanor Stanley, Ayesha Ahmad

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Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia by Eric R. Bialk, Michael R. Lasarev, Patrice K. Held

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dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening by Gang Peng, Yunxuan Zhang, Hongyu Zhao, Curt Scharfe

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Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS by Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca, Hugo Rocha, Laura Vilarinho

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Reducing False-Positive Results in Newborn Screening Using Machine Learning by Gang Peng, Yishuo Tang, Tina M. Cowan, Gregory M. Enns, Hongyu Zhao, Curt Scharfe

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Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace... by Aashish N. Adhikari, Robert J. Currier, Hao Tang, Coleman T. Turgeon, Robert L. Nussbaum, Rajgopal Srinivasan, Uma Sunderam, Pui-Yan Kwok, Steven E. Brenner, Dimitar Gavrilov, Jennifer M. Puck, Renata Gallagher

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