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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Melissa Wasserstein, Michele Caggana, Sean M. Bailey, Robert J. Desnick, Lisa Edelmann, Lissette Estrella, Ian R. Holzman, Nicole Kelly, Ruth Kornreich, S. Gabriel Kupchik,

Genetics in Medicine · 2018 · 166 citations · 36 references

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36

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 1K citations · Full text

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Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots

Thomas H. Zytkovicz, Eileen F Fitzgerald, Deborah Marsden et al. · Clinical Chemistry · 2001 · 496 citations · Full text

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Technical report: ethical and policy issues in genetic testing and screening of children

Howard M. Saal, Karen L. David, Rebecca Rae Anderson · Genetics in Medicine · 2013 · 450 citations · Full text

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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset<i>GLA</i>mutation c.936+919G&gt;A (IVS4+919G&gt;A)

Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ni‐Chung Lee et al. · Human Mutation · 2009 · 358 citations · Full text

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Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening

Yijun Li, C. Ronald Scott, Néstor Chamoles et al. · Clinical Chemistry · 2004 · 333 citations · Full text

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