2022
dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening
Peng G, Zhang Y, Zhao H, Scharfe C. dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening. International Journal Of Neonatal Screening 2022, 8: 48. PMID: 36135348, PMCID: PMC9504335, DOI: 10.3390/ijns8030048.Peer-Reviewed Original ResearchNewborn screeningMetabolite levelsUniversal newborn screeningUniform Screening PanelBlood metabolite levelsNew candidate markersGestational ageFalse-positive resultsBirth weightMetabolic disordersReference rangeInfluence of covariatesNutrition statusBlood collectionNBS programsScreening panelMetabolic conditionsDisease screeningCandidate markersMetabolic differencesNewbornsPositive resultsMetabolic analytes
2021
Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance
Peng G, Tang Y, Cowan TM, Zhao H, Scharfe C. Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance. Frontiers In Pediatrics 2021, 8: 623184. PMID: 33553077, PMCID: PMC7854909, DOI: 10.3389/fped.2020.623184.Peer-Reviewed Original ResearchCarnitine transport defectBlood collectionMethylmalonic acidemiaIsovaleric acidemiaMarker levelsMetabolic disordersElevated marker levelsMetabolic marker levelsFalse-positive casesInborn metabolic disordersNewborn screening dataGestational ageClinical variablesBirth weightStandard groupFalse positive rateMetabolic changesDisease screeningHigh false positive rateEffect size analysisPhenylketonuriaScreening performanceAcidemiaCollection groupDisorders