2020
Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes
Peng G, Tang Y, Gandotra N, Enns GM, Cowan TM, Zhao H, Scharfe C. Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes. Journal Of Inherited Metabolic Disease 2020, 43: 934-943. PMID: 32216101, PMCID: PMC7540352, DOI: 10.1002/jimd.12236.Peer-Reviewed Original ResearchMeSH KeywordsAcyl-CoA Dehydrogenase, Long-ChainAmino Acid Metabolism, Inborn ErrorsBiomarkersBrain Diseases, MetabolicCaliforniaCongenital Bone Marrow Failure SyndromesEthnicityFalse Positive ReactionsFemaleGestational AgeGlutaryl-CoA DehydrogenaseHumansInfant, NewbornLipid Metabolism, Inborn ErrorsMaleMitochondrial DiseasesMuscular DiseasesNeonatal ScreeningOrnithine Carbamoyltransferase Deficiency DiseaseTandem Mass SpectrometryConceptsMetabolic marker levelsOrnithine transcarbamylase deficiencyMethylmalonic acidemiaClinical variablesMarker levelsBlack infantsMetabolic markersBlood metabolic markersDiverse newborn populationGlutaric acidemia type 1False-positive screensLong-chain acyl-CoA dehydrogenase deficiencyEthnicity-related differencesNewborn screening programsFalse-positive casesInborn metabolic disordersAcyl-CoA dehydrogenase deficiencySingleton babiesGestational ageBirth weightScreening programMetabolic disordersNewborn populationInfluence of ethnicityMetabolic screening
2018
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns
Peng G, de Fontnouvelle CA, Enns GM, Cowan TM, Zhao H, Scharfe C. Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. Molecular Genetics And Metabolism 2018, 126: 39-42. PMID: 30448007, PMCID: PMC6361520, DOI: 10.1016/j.ymgme.2018.11.006.Peer-Reviewed Original ResearchConceptsMarker levelsBirth weightMethylmalonic acidemiaPreterm birthHispanic infantsBlack infantsLow birth weightPreterm birth rateFalse-positive casesPreterm newbornsGestational ageFalse-positive resultsHigh prevalenceDiagnostic proceduresInfantsNon-HispanicsBirth rateNewbornsPredictive covariatesAcidemia
2016
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature
Sylvester KG, Kastenberg ZJ, Moss RL, Enns GM, Cowan TM, Shaw GM, Stevenson DK, Sinclair TJ, Scharfe C, Ryckman KK, Jelliffe-Pawlowski LL. Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature. The Journal Of Pediatrics 2016, 181: 80-85.e1. PMID: 27836286, PMCID: PMC5538349, DOI: 10.1016/j.jpeds.2016.10.019.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkersCaliforniaCarnitineCohort StudiesConfidence IntervalsEnterocolitis, NecrotizingFemaleFollow-Up StudiesGestational AgeHumansIncidenceInfant, NewbornInfant, PrematureIntensive Care Units, NeonatalMaleMultivariate AnalysisNeonatal ScreeningOdds RatioReproducibility of ResultsRetrospective StudiesRisk AssessmentVulnerable PopulationsConceptsModel development cohortValidation cohortAcylcarnitine levelsAcylcarnitine profilesNeonatal intensive care unitAbnormal fatty acid metabolismRetrospective cohort studyTotal parenteral nutritionDevelopment of NECIntensive care unitRisk stratification modelNewborn screening resultsDisease prevention strategiesLog unit increaseFatty acid metabolismCohort studyNecrotizing enterocolitisParenteral nutritionPreterm birthCare unitDevelopment of diseaseBirth weightBiologic surrogatesFree carnitineNewborn screening