Amy D. Hietala

Most-cited papers

1. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

   D. McHugh, C. Cameron, J. Abdenur, M. Abdulrahman +242 more

   2011Genetics in Medicine338 citations Open access

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2. Enhanced interpretation of newborn screening results without analyte cutoff values

   Gregg Marquardt, R. Currier, D. McHugh, D. Gavrilov +123 more

   2012Genetics in Medicine125 citations Open access

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3. Comparison of One-Tier and Two-Tier Newborn Screening Metrics for Congenital Adrenal Hyperplasia

   K. Sarafoglou, Kathryn Banks, A. Gaviglio, Amy D. Hietala +2 more

   2012Pediatrics71 citations

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4. A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy

   Katie Wiens, S. Berry, H. Choi, A. Gaviglio +10 more

   2019American Journal of Medical Genetics. Part A69 citations Open access

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5. Expanded newborn screening for detection of vitamin B12 deficiency.

   K. Sarafoglou, J. Rodgers, Amy D. Hietala, D. Matern +1 more

   2011Journal of the American Medical Association (JAMA)45 citations

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6. Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories

   Michael H. Gelb, K. Basheeruddin, A. Burlina, Hsiao-Jan Chen +22 more

   2022International Journal of Neonatal Screening41 citations Open access

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7. Comparison of newborn screening protocols for congenital adrenal hyperplasia in preterm infants.

   K. Sarafoglou, A. Gaviglio, Amy D. Hietala, Garen Frogner +3 more

   2014Jornal de Pediatria37 citations

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8. Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

   M. Kharrazi, Charlene Sacramento, A. Comeau, J. E. Hale +18 more

   2022International Journal of Neonatal Screening17 citations Open access

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9. Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I

   M. C. Dorley, G. Dizikes, C. Pickens, Carla D. Cuthbert +13 more

   2023International Journal of Neonatal Screening10 citations Open access

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10. Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.

    Nishitha R. Pillai, N. Fabie, Tory Kaye, Sondra Rosendahl +5 more

    2023Molecular Genetics and Metabolism6 citations

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11. Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

    Tarek A. Teber, Brian J. Conti, Christopher A. Haynes, Amy D. Hietala +1 more

    2022International Journal of Neonatal Screening1 citations Open access

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12. Newborn screening experience and outcome from a Minnesota Pompe disease consortium

    Nishitha R. Pillai, N. Fabie, Tory Kaye, Sondra Rosendahl +5 more

    2022Molecular Genetics and Metabolism0 citations

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