2023
Validation of a targeted metabolomics panel for improved second‐tier newborn screening
Mak J, Peng G, Le A, Gandotra N, Enns G, Scharfe C, Cowan T. Validation of a targeted metabolomics panel for improved second‐tier newborn screening. Journal Of Inherited Metabolic Disease 2023, 46: 194-205. PMID: 36680545, PMCID: PMC10023470, DOI: 10.1002/jimd.12591.Peer-Reviewed Original ResearchConceptsRecommended Uniform Screening PanelMethylmalonic acidemiaNewborn screeningOrnithine transcarbamylase deficiencySecond-tier assayDisease markersGlutaric acidemia type ILong-chain acyl-CoA dehydrogenase deficiencyScreen-positive casesUniform Screening PanelLong-chain acylcarnitinesSecond-tier testingFalse-positive casesSecond-tier testBlood spot samplesAcyl-CoA dehydrogenase deficiencyMetabolomics panelMetabolic disordersTargeted metabolomics analysisPositive casesMetabolite panelNBS programsDehydrogenase deficiencyLiquid chromatography-tandem mass spectrometryScreening panel
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 screeningReducing False-Positive Results in Newborn Screening Using Machine Learning
Peng G, Tang Y, Cowan TM, Enns GM, Zhao H, Scharfe C. Reducing False-Positive Results in Newborn Screening Using Machine Learning. International Journal Of Neonatal Screening 2020, 6: 16. PMID: 32190768, PMCID: PMC7080200, DOI: 10.3390/ijns6010016.Peer-Reviewed Original ResearchOrnithine transcarbamylase deficiencyMethylmalonic acidemiaNewborn screeningGlutaric acidemia type 1Successful public health programsLong-chain acyl-CoA dehydrogenase deficiencyPublic health programsInborn metabolic disordersAcyl-CoA dehydrogenase deficiencyGestational ageClinical variablesFalse-positive resultsBirth weightMetabolic disordersScreen positivesHealth programsType 1NBS programsDehydrogenase deficiencyDisease markersDisordersPositive resultsScreening
2011
Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
Kim H, Park J, Park K, Lee J, Eun H, Kim J, Shin J. Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency. Clinical And Experimental Pediatrics 2011, 54: 425-428. PMID: 22232626, PMCID: PMC3250597, DOI: 10.3345/kjp.2011.54.10.425.Peer-Reviewed Original ResearchContinuous renal replacement therapyOrnithine transcarbamylase deficiencyRenal replacement therapyReplacement therapyContinuous venovenous hemodiafiltrationSerum ammonia levelInborn errors of metabolismAmmonia levelsDays of lifeTreatment of hyperammonemiaOrnithine transcarbamylaseErrors of metabolismNewborn patientsVenovenous hemodiafiltrationTreatment modalitiesAcute treatmentElevated ammonia levelsInherited disorderNo seizureInborn errorsHyperammonemiaNewbornsTherapyUrea cycleTreatmentHigh-quality DNA sequence capture of 524 disease candidate genes
Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C. High-quality DNA sequence capture of 524 disease candidate genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 6549-6554. PMID: 21467225, PMCID: PMC3080966, DOI: 10.1073/pnas.1018981108.Peer-Reviewed Original ResearchConceptsGenome informationCandidate genomic regionsCopy number differencesHigh GC contentPadlock probesMolecular diagnosticsSingle nucleotide changeExon-level resolutionDisease candidate genesMitochondrial genesGenomic regionsSequence captureOrnithine transcarbamylase deficiencyGC contentOTC geneCandidate genesDNA variantsExon captureGenomic DNANucleotide changesSample processingStructural variantsGenesSequence verificationDNA samples
1995
Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency
Felig D, Brusilow S, Boyer J. Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency. Gastroenterology 1995, 109: 282-284. PMID: 7797025, DOI: 10.1016/0016-5085(95)90295-3.Peer-Reviewed Original ResearchConceptsOrnithine transcarbamylase deficiencyParenteral nutritionNormal liver function test resultsLiver function test resultsLow plasma citrullineTotal parenteral nutritionFunction test resultsTolerance test resultsPartial enzyme deficiencyPartial ornithine transcarbamylase deficiencyUlcerative colitisParenteral alimentationHyperammonemic encephalopathyCase reportPlasma citrullineHyperammonemic comaPlasma glutamineAdult womenUnique caseSimilar episodesElevated levelsEnzyme deficiencySymptomatic expressionHemizygous malesWomen
1984
Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy Locus
Lindgren V, de Martinville B, Horwich A, Rosenberg L, Francke U. Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy Locus. Science 1984, 226: 698-700. PMID: 6494904, DOI: 10.1126/science.6494904.Peer-Reviewed Original ResearchConceptsMitochondrial enzyme ornithine transcarbamylaseHuman ornithine transcarbamylase geneSitu hybridization experimentsOrnithine transcarbamylase geneGene mapsX chromosomeHybridization experimentsDuchenne muscular dystrophy locusShort armGenesX chromosome abnormalitiesMuscular dystrophyCell linesOrnithine transcarbamylaseLociChromosome abnormalitiesCarrier detectionChromosomesDuchenne muscular dystrophyXp21.1DNATranscarbamylaseProbeDystrophyOrnithine transcarbamylase deficiency
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