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Author

Patricia L. Hall

Institution: Mayo Clinic
Observed institution: Mayo Clinic
OpenAlex ID: A5133884151
Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration
2026 · Rachel Wurth, Coleman Turgeon, et al. · Scientific Reports · 2
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COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I
2026 · Zinandré Stander, Amy L. White, et al. · International Journal of Neonatal Screening · 1
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Application of CLIR-Based Post-Analytical Tools to Dutch NBS Data Demonstrates Its Potential Impact on the Performance of CPT1, GA-1, IVA and MSUD Screening in a Disorder-Specific Way
2026 · Nils W. F. Meijer, Rose E. Maase, et al. · International Journal of Neonatal Screening
Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases
2026 · Nils W. F. Meijer, Klaas Koop, et al. · International Journal of Neonatal Screening
The Challenge of Newborn Screening for All Urea Cycle Disorders
2026 · Patricia L. Hall, Dietrich Matern · PEDIATRICS
Use of enasidenib in a 5-week-old male with type II D-2-hydroxyglutaric aciduria
2026 · Ozlem Turedi, Ryan Mahoney, et al. · Molecular Genetics and Metabolism
Works count: 6
Citation count: 3
H-index: 1
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