Patrick V. Hopkins
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Neonatal Health and Biochemistry, Mitochondrial Function and Pathology, Folate and B Vitamins Research
Most-Cited Works
- → Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project(2011)349 cited
- → Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri(2014)199 cited
- → Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited
- → Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease(2018)106 cited
- → Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening(2018)64 cited
- → An Evidence-Based Approach to Breastfeeding Neonates at Risk for Hypoglycemia(2014)12 cited
- → Missouri's first year experience with full population pilot screening for Pompe, Gaucher, Fabry and Hurler disorders using digital microfluidics methodology(2014)3 cited
- → The first two years of full population pilot newborn screening for lysosomal disorders: The Missouri experience(2015)2 cited
- → State-wide newborn screening for four lysosomal diseases reveals high incidence rate for Pompe and Fabry diseases(2017)2 cited
- → Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns(2025)